nsv6314491

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:complex chromosomal rearrangement
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:13
Validation:Not tested
Clinical Assertions: Yes
Region Size:1

Description:46;X;idic(Y)(q11);t(2;6;12;3)(q24;q23;q12;p13)
[21]/46;XY;t(2;6;12;3)dn AND multiple conditions
Publication(s):Mintz et al. 2021, Redin et al. 2016

Links to Other Resources

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 99 SVs from 19 studies. See in: genome view

Remapped(Score: Perfect):161,038,044-161,038,044

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv6314491	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	161,038,044	161,038,044	+
nsv6314491	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	161,038,051	161,038,051	-
nsv6314491	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	161,134,912	161,134,912	-
nsv6314491	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	161,134,915	161,134,915	+
nsv6314491	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	79,767,838	79,767,838	-
nsv6314491	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	79,768,264	79,768,264	-
nsv6314491	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	79,924,147	79,924,147	-
nsv6314491	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	79,924,150	79,924,150	+
nsv6314491	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	81,532,421	81,532,421	+
nsv6314491	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	81,532,426	81,532,426	+
nsv6314491	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	127,878,012	127,878,012	+
nsv6314491	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	127,878,018	127,878,018	+
nsv6314491	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	99,608,424	99,608,424	+
nsv6314491	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	99,608,425	99,608,425	-
nsv6314491	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	99,793,710	99,793,710	-
nsv6314491	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	99,793,721	99,793,721	+
nsv6314491	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	99,996,423	99,996,423	+
nsv6314491	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	99,996,439	99,996,439	-
nsv6314491	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	99,997,076	99,997,076	+
nsv6314491	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	99,997,076	99,997,076	-
nsv6314491	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	43,056,753	43,056,753	+
nsv6314491	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	43,056,778	43,056,778	+
nsv6314491	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	43,352,315	43,352,315	+
nsv6314491	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	43,352,316	43,352,316	-
nsv6314491	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000021.9	Chr21	15,069,128	15,069,128	+
nsv6314491	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000021.9	Chr21	15,069,264	15,069,264	+
nsv6314491	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NT_187556.1	Chr6\|NT_18 7556.1	223,210	223,210	+
nsv6314491	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NT_187556.1	Chr6\|NT_18 7556.1	223,216	223,216	+
nsv6314491	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	161,894,555	161,894,555	+
nsv6314491	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	161,894,562	161,894,562	-
nsv6314491	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	161,991,423	161,991,423	-
nsv6314491	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	161,991,426	161,991,426	+
nsv6314491	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	79,816,988	79,816,988	-
nsv6314491	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	79,817,414	79,817,414	-
nsv6314491	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	79,973,297	79,973,297	-
nsv6314491	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	79,973,300	79,973,300	+
nsv6314491	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	81,581,572	81,581,572	+
nsv6314491	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	81,581,577	81,581,577	+
nsv6314491	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	100,056,300	100,056,300	+
nsv6314491	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	100,056,301	100,056,301	-
nsv6314491	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	100,241,586	100,241,586	-
nsv6314491	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	100,241,597	100,241,597	+
nsv6314491	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	100,444,299	100,444,299	+
nsv6314491	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	100,444,315	100,444,315	-
nsv6314491	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	100,444,952	100,444,952	+
nsv6314491	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	100,444,952	100,444,952	-
nsv6314491	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	128,199,157	128,199,157	+
nsv6314491	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	128,199,163	128,199,163	+
nsv6314491	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	43,450,556	43,450,556	+
nsv6314491	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	43,450,581	43,450,581	+
nsv6314491	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	43,746,118	43,746,118	+
nsv6314491	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	43,746,119	43,746,119	-
nsv6314491	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000021.8	Chr21	16,441,449	16,441,449	+
nsv6314491	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000021.8	Chr21	16,441,585	16,441,585	+

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17975794	interchromosomal translocation	Multiple	Multiple	Absent speech; Absent speech; Aggressive behavior; Aggressive behavior; Atypical behavior; Behavioral abnormality; CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF; Clubfoot; Familial clubfoot with or without associated lower limb anomalies; Hypotonia; Lower limb hypertonia; Lower limb hypertonia; Microcephaly; Microcephaly; Muscular hypotonia; See individual phenotypes in OMIM allelic variants; Seizure; Seizures; Severe global developmental delay; Severe global developmental delay; Short stature; Short stature; Talipes equinovarus	Uncertain significance	ClinVar	RCV000258704.2, VCV000268021.1
nssv17975803	interchromosomal translocation	Multiple	Multiple	Absent speech; Absent speech; Aggressive behavior; Aggressive behavior; Atypical behavior; Behavioral abnormality; CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF; Clubfoot; Familial clubfoot with or without associated lower limb anomalies; Hypotonia; Lower limb hypertonia; Lower limb hypertonia; Microcephaly; Microcephaly; Muscular hypotonia; See individual phenotypes in OMIM allelic variants; Seizure; Seizures; Severe global developmental delay; Severe global developmental delay; Short stature; Short stature; Talipes equinovarus	Uncertain significance	ClinVar	RCV000258704.2, VCV000268021.1
nssv17975802	interchromosomal translocation	Multiple	Multiple	Absent speech; Absent speech; Aggressive behavior; Aggressive behavior; Atypical behavior; Behavioral abnormality; CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF; Clubfoot; Familial clubfoot with or without associated lower limb anomalies; Hypotonia; Lower limb hypertonia; Lower limb hypertonia; Microcephaly; Microcephaly; Muscular hypotonia; See individual phenotypes in OMIM allelic variants; Seizure; Seizures; Severe global developmental delay; Severe global developmental delay; Short stature; Short stature; Talipes equinovarus	Uncertain significance	ClinVar	RCV000258704.2, VCV000268021.1
nssv17975797	interchromosomal translocation	Multiple	Multiple	Absent speech; Absent speech; Aggressive behavior; Aggressive behavior; Atypical behavior; Behavioral abnormality; CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF; Clubfoot; Familial clubfoot with or without associated lower limb anomalies; Hypotonia; Lower limb hypertonia; Lower limb hypertonia; Microcephaly; Microcephaly; Muscular hypotonia; See individual phenotypes in OMIM allelic variants; Seizure; Seizures; Severe global developmental delay; Severe global developmental delay; Short stature; Short stature; Talipes equinovarus	Uncertain significance	ClinVar	RCV000258704.2, VCV000268021.1
nssv17975806	intrachromosomal translocation	Multiple	Multiple	Absent speech; Absent speech; Aggressive behavior; Aggressive behavior; Atypical behavior; Behavioral abnormality; CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF; Clubfoot; Familial clubfoot with or without associated lower limb anomalies; Hypotonia; Lower limb hypertonia; Lower limb hypertonia; Microcephaly; Microcephaly; Muscular hypotonia; See individual phenotypes in OMIM allelic variants; Seizure; Seizures; Severe global developmental delay; Severe global developmental delay; Short stature; Short stature; Talipes equinovarus	Uncertain significance	ClinVar	RCV000258704.2, VCV000268021.1
nssv17975805	interchromosomal translocation	Multiple	Multiple	Absent speech; Absent speech; Aggressive behavior; Aggressive behavior; Atypical behavior; Behavioral abnormality; CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF; Clubfoot; Familial clubfoot with or without associated lower limb anomalies; Hypotonia; Lower limb hypertonia; Lower limb hypertonia; Microcephaly; Microcephaly; Muscular hypotonia; See individual phenotypes in OMIM allelic variants; Seizure; Seizures; Severe global developmental delay; Severe global developmental delay; Short stature; Short stature; Talipes equinovarus	Uncertain significance	ClinVar	RCV000258704.2, VCV000268021.1
nssv17975795	interchromosomal translocation	Multiple	Multiple	Absent speech; Absent speech; Aggressive behavior; Aggressive behavior; Atypical behavior; Behavioral abnormality; CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF; Clubfoot; Familial clubfoot with or without associated lower limb anomalies; Hypotonia; Lower limb hypertonia; Lower limb hypertonia; Microcephaly; Microcephaly; Muscular hypotonia; See individual phenotypes in OMIM allelic variants; Seizure; Seizures; Severe global developmental delay; Severe global developmental delay; Short stature; Short stature; Talipes equinovarus	Uncertain significance	ClinVar	RCV000258704.2, VCV000268021.1
nssv17975801	interchromosomal translocation	Multiple	Multiple	Absent speech; Absent speech; Aggressive behavior; Aggressive behavior; Atypical behavior; Behavioral abnormality; CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF; Clubfoot; Familial clubfoot with or without associated lower limb anomalies; Hypotonia; Lower limb hypertonia; Lower limb hypertonia; Microcephaly; Microcephaly; Muscular hypotonia; See individual phenotypes in OMIM allelic variants; Seizure; Seizures; Severe global developmental delay; Severe global developmental delay; Short stature; Short stature; Talipes equinovarus	Uncertain significance	ClinVar	RCV000258704.2, VCV000268021.1
nssv17975798	interchromosomal translocation	Multiple	Multiple	Absent speech; Absent speech; Aggressive behavior; Aggressive behavior; Atypical behavior; Behavioral abnormality; CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF; Clubfoot; Familial clubfoot with or without associated lower limb anomalies; Hypotonia; Lower limb hypertonia; Lower limb hypertonia; Microcephaly; Microcephaly; Muscular hypotonia; See individual phenotypes in OMIM allelic variants; Seizure; Seizures; Severe global developmental delay; Severe global developmental delay; Short stature; Short stature; Talipes equinovarus	Uncertain significance	ClinVar	RCV000258704.2, VCV000268021.1
nssv17975800	interchromosomal translocation	Multiple	Multiple	Absent speech; Absent speech; Aggressive behavior; Aggressive behavior; Atypical behavior; Behavioral abnormality; CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF; Clubfoot; Familial clubfoot with or without associated lower limb anomalies; Hypotonia; Lower limb hypertonia; Lower limb hypertonia; Microcephaly; Microcephaly; Muscular hypotonia; See individual phenotypes in OMIM allelic variants; Seizure; Seizures; Severe global developmental delay; Severe global developmental delay; Short stature; Short stature; Talipes equinovarus	Uncertain significance	ClinVar	RCV000258704.2, VCV000268021.1
nssv17975796	interchromosomal translocation	Multiple	Multiple	Absent speech; Absent speech; Aggressive behavior; Aggressive behavior; Atypical behavior; Behavioral abnormality; CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF; Clubfoot; Familial clubfoot with or without associated lower limb anomalies; Hypotonia; Lower limb hypertonia; Lower limb hypertonia; Microcephaly; Microcephaly; Muscular hypotonia; See individual phenotypes in OMIM allelic variants; Seizure; Seizures; Severe global developmental delay; Severe global developmental delay; Short stature; Short stature; Talipes equinovarus	Uncertain significance	ClinVar	RCV000258704.2, VCV000268021.1
nssv17975804	intrachromosomal translocation	Multiple	Multiple	Absent speech; Absent speech; Aggressive behavior; Aggressive behavior; Atypical behavior; Behavioral abnormality; CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF; Clubfoot; Familial clubfoot with or without associated lower limb anomalies; Hypotonia; Lower limb hypertonia; Lower limb hypertonia; Microcephaly; Microcephaly; Muscular hypotonia; See individual phenotypes in OMIM allelic variants; Seizure; Seizures; Severe global developmental delay; Severe global developmental delay; Short stature; Short stature; Talipes equinovarus	Uncertain significance	ClinVar	RCV000258704.2, VCV000268021.1
nssv17975799	intrachromosomal translocation	Multiple	Multiple	Absent speech; Absent speech; Aggressive behavior; Aggressive behavior; Atypical behavior; Behavioral abnormality; CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF; Clubfoot; Familial clubfoot with or without associated lower limb anomalies; Hypotonia; Lower limb hypertonia; Lower limb hypertonia; Microcephaly; Microcephaly; Muscular hypotonia; See individual phenotypes in OMIM allelic variants; Seizure; Seizures; Severe global developmental delay; Severe global developmental delay; Short stature; Short stature; Talipes equinovarus	Uncertain significance	ClinVar	RCV000258704.2, VCV000268021.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nssv17975794	Remapped	Perfect	GRCh38.p12	First Pass	NC_000002.12	Chr2	161,038,044	161,038,044	+
nssv17975803	Remapped	Perfect	GRCh38.p12	First Pass	NC_000002.12	Chr2	161,038,051	161,038,051	-
nssv17975802	Remapped	Perfect	GRCh38.p12	First Pass	NC_000002.12	Chr2	161,134,912	161,134,912	-
nssv17975797	Remapped	Perfect	GRCh38.p12	First Pass	NC_000002.12	Chr2	161,134,915	161,134,915	+
nssv17975794	Remapped	Perfect	GRCh38.p12	First Pass	NC_000003.12	Chr3	79,767,838	79,767,838	-
nssv17975806	Remapped	Perfect	GRCh38.p12	First Pass	NC_000003.12	Chr3	79,768,264	79,768,264	-
nssv17975805	Remapped	Perfect	GRCh38.p12	First Pass	NC_000003.12	Chr3	79,924,147	79,924,147	-
nssv17975806	Remapped	Perfect	GRCh38.p12	First Pass	NC_000003.12	Chr3	79,924,150	79,924,150	+
nssv17975795	Remapped	Perfect	GRCh38.p12	First Pass	NC_000003.12	Chr3	81,532,421	81,532,421	+
nssv17975801	Remapped	Perfect	GRCh38.p12	First Pass	NC_000003.12	Chr3	81,532,426	81,532,426	+
nssv17975805	Remapped	Perfect	GRCh38.p12	Second Pass	NT_187556.1	Chr6\|NT_18 7556.1	223,210	223,210	+
nssv17975798	Remapped	Perfect	GRCh38.p12	Second Pass	NT_187556.1	Chr6\|NT_18 7556.1	223,216	223,216	+
nssv17975802	Remapped	Perfect	GRCh38.p12	First Pass	NC_000006.12	Chr6	99,608,424	99,608,424	+
nssv17975801	Remapped	Perfect	GRCh38.p12	First Pass	NC_000006.12	Chr6	99,608,425	99,608,425	-
nssv17975800	Remapped	Perfect	GRCh38.p12	First Pass	NC_000006.12	Chr6	99,793,710	99,793,710	-
nssv17975796	Remapped	Perfect	GRCh38.p12	First Pass	NC_000006.12	Chr6	99,793,721	99,793,721	+
nssv17975797	Remapped	Perfect	GRCh38.p12	First Pass	NC_000006.12	Chr6	99,996,423	99,996,423	+
nssv17975804	Remapped	Perfect	GRCh38.p12	First Pass	NC_000006.12	Chr6	99,996,439	99,996,439	-
nssv17975803	Remapped	Perfect	GRCh38.p12	First Pass	NC_000006.12	Chr6	99,997,076	99,997,076	-
nssv17975804	Remapped	Perfect	GRCh38.p12	First Pass	NC_000006.12	Chr6	99,997,076	99,997,076	+
nssv17975805	Remapped	Perfect	GRCh38.p12	First Pass	NC_000006.12	Chr6	127,878,012	127,878,012	+
nssv17975798	Remapped	Perfect	GRCh38.p12	First Pass	NC_000006.12	Chr6	127,878,018	127,878,018	+
nssv17975798	Remapped	Perfect	GRCh38.p12	First Pass	NC_000012.12	Chr12	43,056,753	43,056,753	+
nssv17975799	Remapped	Perfect	GRCh38.p12	First Pass	NC_000012.12	Chr12	43,056,778	43,056,778	+
nssv17975800	Remapped	Perfect	GRCh38.p12	First Pass	NC_000012.12	Chr12	43,352,315	43,352,315	+
nssv17975799	Remapped	Perfect	GRCh38.p12	First Pass	NC_000012.12	Chr12	43,352,316	43,352,316	-
nssv17975795	Remapped	Perfect	GRCh38.p12	First Pass	NC_000021.9	Chr21	15,069,128	15,069,128	+
nssv17975796	Remapped	Perfect	GRCh38.p12	First Pass	NC_000021.9	Chr21	15,069,264	15,069,264	+
nssv17975794	Submitted genomic		GRCh37 (hg19)		NC_000002.11	Chr2	161,894,555	161,894,555	+
nssv17975803	Submitted genomic		GRCh37 (hg19)		NC_000002.11	Chr2	161,894,562	161,894,562	-
nssv17975802	Submitted genomic		GRCh37 (hg19)		NC_000002.11	Chr2	161,991,423	161,991,423	-
nssv17975797	Submitted genomic		GRCh37 (hg19)		NC_000002.11	Chr2	161,991,426	161,991,426	+
nssv17975794	Submitted genomic		GRCh37 (hg19)		NC_000003.11	Chr3	79,816,988	79,816,988	-
nssv17975806	Submitted genomic		GRCh37 (hg19)		NC_000003.11	Chr3	79,817,414	79,817,414	-
nssv17975805	Submitted genomic		GRCh37 (hg19)		NC_000003.11	Chr3	79,973,297	79,973,297	-
nssv17975806	Submitted genomic		GRCh37 (hg19)		NC_000003.11	Chr3	79,973,300	79,973,300	+
nssv17975795	Submitted genomic		GRCh37 (hg19)		NC_000003.11	Chr3	81,581,572	81,581,572	+
nssv17975801	Submitted genomic		GRCh37 (hg19)		NC_000003.11	Chr3	81,581,577	81,581,577	+
nssv17975802	Submitted genomic		GRCh37 (hg19)		NC_000006.11	Chr6	100,056,300	100,056,300	+
nssv17975801	Submitted genomic		GRCh37 (hg19)		NC_000006.11	Chr6	100,056,301	100,056,301	-
nssv17975800	Submitted genomic		GRCh37 (hg19)		NC_000006.11	Chr6	100,241,586	100,241,586	-
nssv17975796	Submitted genomic		GRCh37 (hg19)		NC_000006.11	Chr6	100,241,597	100,241,597	+
nssv17975797	Submitted genomic		GRCh37 (hg19)		NC_000006.11	Chr6	100,444,299	100,444,299	+
nssv17975804	Submitted genomic		GRCh37 (hg19)		NC_000006.11	Chr6	100,444,315	100,444,315	-
nssv17975803	Submitted genomic		GRCh37 (hg19)		NC_000006.11	Chr6	100,444,952	100,444,952	-
nssv17975804	Submitted genomic		GRCh37 (hg19)		NC_000006.11	Chr6	100,444,952	100,444,952	+
nssv17975805	Submitted genomic		GRCh37 (hg19)		NC_000006.11	Chr6	128,199,157	128,199,157	+
nssv17975798	Submitted genomic		GRCh37 (hg19)		NC_000006.11	Chr6	128,199,163	128,199,163	+
nssv17975798	Submitted genomic		GRCh37 (hg19)		NC_000012.11	Chr12	43,450,556	43,450,556	+
nssv17975799	Submitted genomic		GRCh37 (hg19)		NC_000012.11	Chr12	43,450,581	43,450,581	+
nssv17975800	Submitted genomic		GRCh37 (hg19)		NC_000012.11	Chr12	43,746,118	43,746,118	+
nssv17975799	Submitted genomic		GRCh37 (hg19)		NC_000012.11	Chr12	43,746,119	43,746,119	-
nssv17975795	Submitted genomic		GRCh37 (hg19)		NC_000021.8	Chr21	16,441,449	16,441,449	+
nssv17975796	Submitted genomic		GRCh37 (hg19)		NC_000021.8	Chr21	16,441,585	16,441,585	+

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17975794	interchromosomal translocation	de novo	Absent speech; Absent speech; Aggressive behavior; Aggressive behavior; Atypical behavior; Behavioral abnormality; CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF; Clubfoot; Familial clubfoot with or without associated lower limb anomalies; Hypotonia; Lower limb hypertonia; Lower limb hypertonia; Microcephaly; Microcephaly; Muscular hypotonia; See individual phenotypes in OMIM allelic variants; Seizure; Seizures; Severe global developmental delay; Severe global developmental delay; Short stature; Short stature; Talipes equinovarus	Uncertain significance	ClinVar	RCV000258704.2, VCV000268021.1
nssv17975803	interchromosomal translocation	de novo	Absent speech; Absent speech; Aggressive behavior; Aggressive behavior; Atypical behavior; Behavioral abnormality; CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF; Clubfoot; Familial clubfoot with or without associated lower limb anomalies; Hypotonia; Lower limb hypertonia; Lower limb hypertonia; Microcephaly; Microcephaly; Muscular hypotonia; See individual phenotypes in OMIM allelic variants; Seizure; Seizures; Severe global developmental delay; Severe global developmental delay; Short stature; Short stature; Talipes equinovarus	Uncertain significance	ClinVar	RCV000258704.2, VCV000268021.1
nssv17975802	interchromosomal translocation	de novo	Absent speech; Absent speech; Aggressive behavior; Aggressive behavior; Atypical behavior; Behavioral abnormality; CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF; Clubfoot; Familial clubfoot with or without associated lower limb anomalies; Hypotonia; Lower limb hypertonia; Lower limb hypertonia; Microcephaly; Microcephaly; Muscular hypotonia; See individual phenotypes in OMIM allelic variants; Seizure; Seizures; Severe global developmental delay; Severe global developmental delay; Short stature; Short stature; Talipes equinovarus	Uncertain significance	ClinVar	RCV000258704.2, VCV000268021.1
nssv17975797	interchromosomal translocation	de novo	Absent speech; Absent speech; Aggressive behavior; Aggressive behavior; Atypical behavior; Behavioral abnormality; CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF; Clubfoot; Familial clubfoot with or without associated lower limb anomalies; Hypotonia; Lower limb hypertonia; Lower limb hypertonia; Microcephaly; Microcephaly; Muscular hypotonia; See individual phenotypes in OMIM allelic variants; Seizure; Seizures; Severe global developmental delay; Severe global developmental delay; Short stature; Short stature; Talipes equinovarus	Uncertain significance	ClinVar	RCV000258704.2, VCV000268021.1
nssv17975806	intrachromosomal translocation	de novo	Absent speech; Absent speech; Aggressive behavior; Aggressive behavior; Atypical behavior; Behavioral abnormality; CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF; Clubfoot; Familial clubfoot with or without associated lower limb anomalies; Hypotonia; Lower limb hypertonia; Lower limb hypertonia; Microcephaly; Microcephaly; Muscular hypotonia; See individual phenotypes in OMIM allelic variants; Seizure; Seizures; Severe global developmental delay; Severe global developmental delay; Short stature; Short stature; Talipes equinovarus	Uncertain significance	ClinVar	RCV000258704.2, VCV000268021.1
nssv17975805	interchromosomal translocation	de novo	Absent speech; Absent speech; Aggressive behavior; Aggressive behavior; Atypical behavior; Behavioral abnormality; CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF; Clubfoot; Familial clubfoot with or without associated lower limb anomalies; Hypotonia; Lower limb hypertonia; Lower limb hypertonia; Microcephaly; Microcephaly; Muscular hypotonia; See individual phenotypes in OMIM allelic variants; Seizure; Seizures; Severe global developmental delay; Severe global developmental delay; Short stature; Short stature; Talipes equinovarus	Uncertain significance	ClinVar	RCV000258704.2, VCV000268021.1
nssv17975795	interchromosomal translocation	de novo	Absent speech; Absent speech; Aggressive behavior; Aggressive behavior; Atypical behavior; Behavioral abnormality; CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF; Clubfoot; Familial clubfoot with or without associated lower limb anomalies; Hypotonia; Lower limb hypertonia; Lower limb hypertonia; Microcephaly; Microcephaly; Muscular hypotonia; See individual phenotypes in OMIM allelic variants; Seizure; Seizures; Severe global developmental delay; Severe global developmental delay; Short stature; Short stature; Talipes equinovarus	Uncertain significance	ClinVar	RCV000258704.2, VCV000268021.1
nssv17975801	interchromosomal translocation	de novo	Absent speech; Absent speech; Aggressive behavior; Aggressive behavior; Atypical behavior; Behavioral abnormality; CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF; Clubfoot; Familial clubfoot with or without associated lower limb anomalies; Hypotonia; Lower limb hypertonia; Lower limb hypertonia; Microcephaly; Microcephaly; Muscular hypotonia; See individual phenotypes in OMIM allelic variants; Seizure; Seizures; Severe global developmental delay; Severe global developmental delay; Short stature; Short stature; Talipes equinovarus	Uncertain significance	ClinVar	RCV000258704.2, VCV000268021.1
nssv17975798	interchromosomal translocation	de novo	Absent speech; Absent speech; Aggressive behavior; Aggressive behavior; Atypical behavior; Behavioral abnormality; CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF; Clubfoot; Familial clubfoot with or without associated lower limb anomalies; Hypotonia; Lower limb hypertonia; Lower limb hypertonia; Microcephaly; Microcephaly; Muscular hypotonia; See individual phenotypes in OMIM allelic variants; Seizure; Seizures; Severe global developmental delay; Severe global developmental delay; Short stature; Short stature; Talipes equinovarus	Uncertain significance	ClinVar	RCV000258704.2, VCV000268021.1
nssv17975800	interchromosomal translocation	de novo	Absent speech; Absent speech; Aggressive behavior; Aggressive behavior; Atypical behavior; Behavioral abnormality; CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF; Clubfoot; Familial clubfoot with or without associated lower limb anomalies; Hypotonia; Lower limb hypertonia; Lower limb hypertonia; Microcephaly; Microcephaly; Muscular hypotonia; See individual phenotypes in OMIM allelic variants; Seizure; Seizures; Severe global developmental delay; Severe global developmental delay; Short stature; Short stature; Talipes equinovarus	Uncertain significance	ClinVar	RCV000258704.2, VCV000268021.1
nssv17975796	interchromosomal translocation	de novo	Absent speech; Absent speech; Aggressive behavior; Aggressive behavior; Atypical behavior; Behavioral abnormality; CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF; Clubfoot; Familial clubfoot with or without associated lower limb anomalies; Hypotonia; Lower limb hypertonia; Lower limb hypertonia; Microcephaly; Microcephaly; Muscular hypotonia; See individual phenotypes in OMIM allelic variants; Seizure; Seizures; Severe global developmental delay; Severe global developmental delay; Short stature; Short stature; Talipes equinovarus	Uncertain significance	ClinVar	RCV000258704.2, VCV000268021.1
nssv17975804	intrachromosomal translocation	de novo	Absent speech; Absent speech; Aggressive behavior; Aggressive behavior; Atypical behavior; Behavioral abnormality; CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF; Clubfoot; Familial clubfoot with or without associated lower limb anomalies; Hypotonia; Lower limb hypertonia; Lower limb hypertonia; Microcephaly; Microcephaly; Muscular hypotonia; See individual phenotypes in OMIM allelic variants; Seizure; Seizures; Severe global developmental delay; Severe global developmental delay; Short stature; Short stature; Talipes equinovarus	Uncertain significance	ClinVar	RCV000258704.2, VCV000268021.1
nssv17975799	intrachromosomal translocation	de novo	Absent speech; Absent speech; Aggressive behavior; Aggressive behavior; Atypical behavior; Behavioral abnormality; CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF; Clubfoot; Familial clubfoot with or without associated lower limb anomalies; Hypotonia; Lower limb hypertonia; Lower limb hypertonia; Microcephaly; Microcephaly; Muscular hypotonia; See individual phenotypes in OMIM allelic variants; Seizure; Seizures; Severe global developmental delay; Severe global developmental delay; Short stature; Short stature; Talipes equinovarus	Uncertain significance	ClinVar	RCV000258704.2, VCV000268021.1

dbVar

Database of genomic structural variation

nsv6314491

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Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

No validation data were submitted for this variant

Clinical Assertions

No genotype data were submitted for this variant