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dbVar

Database of genomic structural variation

nsv6314402

Organism: Homo sapiens

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

Variant Calls:4
Validation:Not tested
Clinical Assertions: Yes
Region Size:1

Description:46;XY;ins(16;2)(q22.1;p16.2p21)pat AND multiple conditions
Publication(s):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: 109 SVs from 23 studies. See in: genome view

Remapped(Score: Perfect):48,489,716-48,489,716

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv6314402	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	48,489,716	48,489,716	+
nsv6314402	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	48,489,724	48,489,724	-
nsv6314402	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	50,918,204	50,918,204	+
nsv6314402	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	50,918,205	50,918,205	-
nsv6314402	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	59,862,801	59,862,801	+
nsv6314402	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	59,862,802	59,862,802	+
nsv6314402	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	63,881,919	63,881,919	+
nsv6314402	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	63,881,920	63,881,920	+
nsv6314402	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	48,716,855	48,716,855	+
nsv6314402	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	48,716,863	48,716,863	-
nsv6314402	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	51,145,342	51,145,342	+
nsv6314402	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	51,145,343	51,145,343	-
nsv6314402	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	60,089,936	60,089,936	+
nsv6314402	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	60,089,937	60,089,937	+
nsv6314402	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	63,915,823	63,915,823	+
nsv6314402	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	63,915,824	63,915,824	+

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17975828	intrachromosomal translocation	Multiple	Multiple	Abnormality of speech or vocalization; Delayed speech and language development; Delayed speech and language development; Neurological speech impairment; Obsessive-compulsive trait; Obsessive-compulsive trait	Pathogenic	ClinVar	RCV000258715.1, VCV000267826.1
nssv17975829	intrachromosomal translocation	Multiple	Multiple	Abnormality of speech or vocalization; Delayed speech and language development; Delayed speech and language development; Neurological speech impairment; Obsessive-compulsive trait; Obsessive-compulsive trait	Pathogenic	ClinVar	RCV000258715.1, VCV000267826.1
nssv17975830	interchromosomal translocation	Multiple	Multiple	Abnormality of speech or vocalization; Delayed speech and language development; Delayed speech and language development; Neurological speech impairment; Obsessive-compulsive trait; Obsessive-compulsive trait	Pathogenic	ClinVar	RCV000258715.1, VCV000267826.1
nssv17975831	interchromosomal translocation	Multiple	Multiple	Abnormality of speech or vocalization; Delayed speech and language development; Delayed speech and language development; Neurological speech impairment; Obsessive-compulsive trait; Obsessive-compulsive trait	Pathogenic	ClinVar	RCV000258715.1, VCV000267826.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nssv17975828	Remapped	Perfect	GRCh38.p12	First Pass	NC_000002.12	Chr2	48,489,716	48,489,716	+
nssv17975829	Remapped	Perfect	GRCh38.p12	First Pass	NC_000002.12	Chr2	48,489,724	48,489,724	-
nssv17975830	Remapped	Perfect	GRCh38.p12	First Pass	NC_000002.12	Chr2	50,918,204	50,918,204	+
nssv17975828	Remapped	Perfect	GRCh38.p12	First Pass	NC_000002.12	Chr2	50,918,205	50,918,205	-
nssv17975831	Remapped	Perfect	GRCh38.p12	First Pass	NC_000002.12	Chr2	59,862,801	59,862,801	+
nssv17975829	Remapped	Perfect	GRCh38.p12	First Pass	NC_000002.12	Chr2	59,862,802	59,862,802	+
nssv17975830	Remapped	Perfect	GRCh38.p12	First Pass	NC_000016.10	Chr16	63,881,919	63,881,919	+
nssv17975831	Remapped	Perfect	GRCh38.p12	First Pass	NC_000016.10	Chr16	63,881,920	63,881,920	+
nssv17975828	Submitted genomic		GRCh37 (hg19)		NC_000002.11	Chr2	48,716,855	48,716,855	+
nssv17975829	Submitted genomic		GRCh37 (hg19)		NC_000002.11	Chr2	48,716,863	48,716,863	-
nssv17975830	Submitted genomic		GRCh37 (hg19)		NC_000002.11	Chr2	51,145,342	51,145,342	+
nssv17975828	Submitted genomic		GRCh37 (hg19)		NC_000002.11	Chr2	51,145,343	51,145,343	-
nssv17975831	Submitted genomic		GRCh37 (hg19)		NC_000002.11	Chr2	60,089,936	60,089,936	+
nssv17975829	Submitted genomic		GRCh37 (hg19)		NC_000002.11	Chr2	60,089,937	60,089,937	+
nssv17975830	Submitted genomic		GRCh37 (hg19)		NC_000016.9	Chr16	63,915,823	63,915,823	+
nssv17975831	Submitted genomic		GRCh37 (hg19)		NC_000016.9	Chr16	63,915,824	63,915,824	+

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
nssv17975828	intrachromosomal translocation	paternal	Abnormality of speech or vocalization; Delayed speech and language development; Delayed speech and language development; Neurological speech impairment; Obsessive-compulsive trait; Obsessive-compulsive trait	Pathogenic	ClinVar	RCV000258715.1, VCV000267826.1
nssv17975829	intrachromosomal translocation	paternal	Abnormality of speech or vocalization; Delayed speech and language development; Delayed speech and language development; Neurological speech impairment; Obsessive-compulsive trait; Obsessive-compulsive trait	Pathogenic	ClinVar	RCV000258715.1, VCV000267826.1
nssv17975830	interchromosomal translocation	paternal	Abnormality of speech or vocalization; Delayed speech and language development; Delayed speech and language development; Neurological speech impairment; Obsessive-compulsive trait; Obsessive-compulsive trait	Pathogenic	ClinVar	RCV000258715.1, VCV000267826.1
nssv17975831	interchromosomal translocation	paternal	Abnormality of speech or vocalization; Delayed speech and language development; Delayed speech and language development; Neurological speech impairment; Obsessive-compulsive trait; Obsessive-compulsive trait	Pathogenic	ClinVar	RCV000258715.1, VCV000267826.1

No genotype data were submitted for this variant

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