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dbVar

Database of genomic structural variation

nsv6314488

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:1

Description:
46;XY;t(4;14)(p15.32;q32.1)dn AND multiple conditions
Publication(s):Manickam et al. 2021, Michelson et al. 2011, 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: 101 SVs from 25 studies. See in: genome view

Remapped(Score: Perfect):13,145,305-13,145,305

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv6314488	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	13,145,305	13,145,305	-
nsv6314488	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	13,145,305	13,145,305	+
nsv6314488	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	91,400,562	91,400,562	-
nsv6314488	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	91,400,569	91,400,569	+
nsv6314488	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	13,146,929	13,146,929	-
nsv6314488	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	13,146,929	13,146,929	+
nsv6314488	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	91,866,906	91,866,906	-
nsv6314488	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	91,866,913	91,866,913	+

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17975506	interchromosomal translocation	Multiple	Multiple	ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; Attention deficit hyperactivity disorder; Attention deficit hyperactivity disorder; CRYPTORCHIDISM, UNILATERAL OR BILATERAL; Cryptorchidism; Cryptorchidism; Esotropia; Esotropia; Global developmental delay; Global developmental delay; Inguinal hernia; Inguinal hernia; Nystagmus; Nystagmus; Plagiocephaly; Plagiocephaly; Server error < EMBL-EBI; Short stature; Short stature	Uncertain significance	ClinVar	RCV000258611.2, VCV000267808.1
nssv17975507	interchromosomal translocation	Multiple	Multiple	ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; Attention deficit hyperactivity disorder; Attention deficit hyperactivity disorder; CRYPTORCHIDISM, UNILATERAL OR BILATERAL; Cryptorchidism; Cryptorchidism; Esotropia; Esotropia; Global developmental delay; Global developmental delay; Inguinal hernia; Inguinal hernia; Nystagmus; Nystagmus; Plagiocephaly; Plagiocephaly; Server error < EMBL-EBI; Short stature; Short stature	Uncertain significance	ClinVar	RCV000258611.2, VCV000267808.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nssv17975506	Remapped	Perfect	GRCh38.p12	First Pass	NC_000004.12	Chr4	13,145,305	13,145,305	+
nssv17975507	Remapped	Perfect	GRCh38.p12	First Pass	NC_000004.12	Chr4	13,145,305	13,145,305	-
nssv17975506	Remapped	Perfect	GRCh38.p12	First Pass	NC_000014.9	Chr14	91,400,562	91,400,562	-
nssv17975507	Remapped	Perfect	GRCh38.p12	First Pass	NC_000014.9	Chr14	91,400,569	91,400,569	+
nssv17975506	Submitted genomic		GRCh37 (hg19)		NC_000004.11	Chr4	13,146,929	13,146,929	+
nssv17975507	Submitted genomic		GRCh37 (hg19)		NC_000004.11	Chr4	13,146,929	13,146,929	-
nssv17975506	Submitted genomic		GRCh37 (hg19)		NC_000014.8	Chr14	91,866,906	91,866,906	-
nssv17975507	Submitted genomic		GRCh37 (hg19)		NC_000014.8	Chr14	91,866,913	91,866,913	+

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
nssv17975506	interchromosomal translocation	de novo	ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; Attention deficit hyperactivity disorder; Attention deficit hyperactivity disorder; CRYPTORCHIDISM, UNILATERAL OR BILATERAL; Cryptorchidism; Cryptorchidism; Esotropia; Esotropia; Global developmental delay; Global developmental delay; Inguinal hernia; Inguinal hernia; Nystagmus; Nystagmus; Plagiocephaly; Plagiocephaly; Server error < EMBL-EBI; Short stature; Short stature	Uncertain significance	ClinVar	RCV000258611.2, VCV000267808.1
nssv17975507	interchromosomal translocation	de novo	ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; Attention deficit hyperactivity disorder; Attention deficit hyperactivity disorder; CRYPTORCHIDISM, UNILATERAL OR BILATERAL; Cryptorchidism; Cryptorchidism; Esotropia; Esotropia; Global developmental delay; Global developmental delay; Inguinal hernia; Inguinal hernia; Nystagmus; Nystagmus; Plagiocephaly; Plagiocephaly; Server error < EMBL-EBI; Short stature; Short stature	Uncertain significance	ClinVar	RCV000258611.2, VCV000267808.1

No genotype data were submitted for this variant

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