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dbVar

Database of genomic structural variation

nsv6314514

Organism: Homo sapiens

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

Variant Calls:3
Validation:Not tested
Clinical Assertions: Yes
Region Size:1

Description:
46;XY;t(7;19)(q32;q13.1)dn AND multiple conditions
Publication(s):Manickam et al. 2021, Michelson et al. 2011, 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: 93 SVs from 24 studies. See in: genome view

Remapped(Score: Perfect):128,473,969-128,473,969

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv6314514	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	128,473,969	128,473,969	+
nsv6314514	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	128,473,974	128,473,974	+
nsv6314514	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	28,756,557	28,756,557	+
nsv6314514	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	28,756,557	28,756,557	+
nsv6314514	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	32,370,862	32,370,862	+
nsv6314514	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	32,370,862	32,370,862	+
nsv6314514	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	128,114,023	128,114,023	+
nsv6314514	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	128,114,028	128,114,028	+
nsv6314514	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	29,247,464	29,247,464	+
nsv6314514	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	29,247,464	29,247,464	+
nsv6314514	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	32,861,768	32,861,768	+
nsv6314514	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	32,861,768	32,861,768	+

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17975395	interchromosomal translocation	Multiple	Multiple	Abnormal facial shape; Abnormal facial shape; Abnormal muscle tone; Abnormal muscle tone; Abnormality of the ear; Abnormality of the ear; Abnormality of the gastrointestinal tract; Abnormality of the gastrointestinal tract; Absent speech; Absent speech; Achalasia; Achalasia; Autistic behavior; Autistic behavior; Delayed myelination; Delayed myelination; EAR MALFORMATION; EEG with abnormally slow frequencies; EEG with abnormally slow frequencies; EPICANTHUS; Epicanthus; Epicanthus; Global developmental delay; Global developmental delay; Hypoplasia of the frontal lobes; Hypoplasia of the frontal lobes; Joint laxity; Joint laxity; Prominent forehead; Prominent forehead	Pathogenic	ClinVar	RCV000258581.2, VCV000267828.1
nssv17975394	interchromosomal translocation	Multiple	Multiple	Abnormal facial shape; Abnormal facial shape; Abnormal muscle tone; Abnormal muscle tone; Abnormality of the ear; Abnormality of the ear; Abnormality of the gastrointestinal tract; Abnormality of the gastrointestinal tract; Absent speech; Absent speech; Achalasia; Achalasia; Autistic behavior; Autistic behavior; Delayed myelination; Delayed myelination; EAR MALFORMATION; EEG with abnormally slow frequencies; EEG with abnormally slow frequencies; EPICANTHUS; Epicanthus; Epicanthus; Global developmental delay; Global developmental delay; Hypoplasia of the frontal lobes; Hypoplasia of the frontal lobes; Joint laxity; Joint laxity; Prominent forehead; Prominent forehead	Pathogenic	ClinVar	RCV000258581.2, VCV000267828.1
nssv17975396	copy number loss	Multiple	Multiple	Abnormal facial shape; Abnormal facial shape; Abnormal muscle tone; Abnormal muscle tone; Abnormality of the ear; Abnormality of the ear; Abnormality of the gastrointestinal tract; Abnormality of the gastrointestinal tract; Absent speech; Absent speech; Achalasia; Achalasia; Autistic behavior; Autistic behavior; Delayed myelination; Delayed myelination; EAR MALFORMATION; EEG with abnormally slow frequencies; EEG with abnormally slow frequencies; EPICANTHUS; Epicanthus; Epicanthus; Global developmental delay; Global developmental delay; Hypoplasia of the frontal lobes; Hypoplasia of the frontal lobes; Joint laxity; Joint laxity; Prominent forehead; Prominent forehead	Pathogenic	ClinVar	RCV000258581.2, VCV000267828.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nssv17975395	Remapped	Perfect		GRCh38.p12	First Pass	NC_000007.14	Chr7	128,473,969	128,473,969	+
nssv17975394	Remapped	Perfect		GRCh38.p12	First Pass	NC_000007.14	Chr7	128,473,974	128,473,974	+
nssv17975395	Remapped	Perfect		GRCh38.p12	First Pass	NC_000019.10	Chr19	28,756,557	28,756,557	+
nssv17975396	Remapped	Perfect	NC_000019.10:g.287 56557delNC_000019. 10:g.32370862del	GRCh38.p12	First Pass	NC_000019.10	Chr19	28,756,557	28,756,557
nssv17975394	Remapped	Perfect		GRCh38.p12	First Pass	NC_000019.10	Chr19	32,370,862	32,370,862	+
nssv17975396	Remapped	Perfect	NC_000019.10:g.287 56557delNC_000019. 10:g.32370862del	GRCh38.p12	First Pass	NC_000019.10	Chr19	32,370,862	32,370,862
nssv17975395	Submitted genomic			GRCh37 (hg19)		NC_000007.13	Chr7	128,114,023	128,114,023	+
nssv17975394	Submitted genomic			GRCh37 (hg19)		NC_000007.13	Chr7	128,114,028	128,114,028	+
nssv17975395	Submitted genomic			GRCh37 (hg19)		NC_000019.9	Chr19	29,247,464	29,247,464	+
nssv17975396	Submitted genomic		NC_000019.9:g.2924 7464delNC_000019.9 :g.32861768del	GRCh37 (hg19)		NC_000019.9	Chr19	29,247,464	29,247,464
nssv17975394	Submitted genomic			GRCh37 (hg19)		NC_000019.9	Chr19	32,861,768	32,861,768	+
nssv17975396	Submitted genomic		NC_000019.9:g.2924 7464delNC_000019.9 :g.32861768del	GRCh37 (hg19)		NC_000019.9	Chr19	32,861,768	32,861,768

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17975395		interchromosomal translocation	de novo	Abnormal facial shape; Abnormal facial shape; Abnormal muscle tone; Abnormal muscle tone; Abnormality of the ear; Abnormality of the ear; Abnormality of the gastrointestinal tract; Abnormality of the gastrointestinal tract; Absent speech; Absent speech; Achalasia; Achalasia; Autistic behavior; Autistic behavior; Delayed myelination; Delayed myelination; EAR MALFORMATION; EEG with abnormally slow frequencies; EEG with abnormally slow frequencies; EPICANTHUS; Epicanthus; Epicanthus; Global developmental delay; Global developmental delay; Hypoplasia of the frontal lobes; Hypoplasia of the frontal lobes; Joint laxity; Joint laxity; Prominent forehead; Prominent forehead	Pathogenic	ClinVar	RCV000258581.2, VCV000267828.1
nssv17975394		interchromosomal translocation	de novo	Abnormal facial shape; Abnormal facial shape; Abnormal muscle tone; Abnormal muscle tone; Abnormality of the ear; Abnormality of the ear; Abnormality of the gastrointestinal tract; Abnormality of the gastrointestinal tract; Absent speech; Absent speech; Achalasia; Achalasia; Autistic behavior; Autistic behavior; Delayed myelination; Delayed myelination; EAR MALFORMATION; EEG with abnormally slow frequencies; EEG with abnormally slow frequencies; EPICANTHUS; Epicanthus; Epicanthus; Global developmental delay; Global developmental delay; Hypoplasia of the frontal lobes; Hypoplasia of the frontal lobes; Joint laxity; Joint laxity; Prominent forehead; Prominent forehead	Pathogenic	ClinVar	RCV000258581.2, VCV000267828.1
nssv17975396	GRCh37: NC_000019.9:g.29247464delNC_000019.9:g.32861768del	copy number loss	de novo	Abnormal facial shape; Abnormal facial shape; Abnormal muscle tone; Abnormal muscle tone; Abnormality of the ear; Abnormality of the ear; Abnormality of the gastrointestinal tract; Abnormality of the gastrointestinal tract; Absent speech; Absent speech; Achalasia; Achalasia; Autistic behavior; Autistic behavior; Delayed myelination; Delayed myelination; EAR MALFORMATION; EEG with abnormally slow frequencies; EEG with abnormally slow frequencies; EPICANTHUS; Epicanthus; Epicanthus; Global developmental delay; Global developmental delay; Hypoplasia of the frontal lobes; Hypoplasia of the frontal lobes; Joint laxity; Joint laxity; Prominent forehead; Prominent forehead	Pathogenic	ClinVar	RCV000258581.2, VCV000267828.1

No genotype data were submitted for this variant

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