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dbVar

Database of genomic structural variation

nsv6290131

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:187,596

Description:
See descriptions for individual calls in download files
Publication(s):Hildebrand et al. 2009, Shearer et al. 1999

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: 868 SVs from 84 studies. See in: genome view

Remapped(Score: Perfect):43,559,001-43,746,596

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv6290131	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	43,559,001	43,598,135	43,648,622	43,746,596
nsv6290131	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000015.9	Chr15	43,851,199	43,890,333	43,940,820	44,038,794

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17956016	deletion	Multiple	Multiple	CATSPER-Related Male Infertility; DEAFNESS-INFERTILITY SYNDROME; DIS; Deafness-infertility syndrome; Deafness-infertility syndrome	Pathogenic	ClinVar	RCV001799522.1, VCV001174526.2
nssv17956031	deletion	Multiple	Multiple	Autosomal recessive non syndromic sensorineural deafness type DFNB; DEAFNESS, AUTOSOMAL RECESSIVE 16; DFNB16; Deafness, autosomal recessive 16	Likely pathogenic	ClinVar	RCV001806220.1, VCV001174526.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv17956016	Remapped	Perfect	NC_000015.10:g.(43 559001_43598135)_( 43648622_43746596) del	GRCh38.p12	First Pass	NC_000015.10	Chr15	43,559,001	43,598,135	43,648,622	43,746,596
nssv17956031	Remapped	Perfect	NC_000015.10:g.(43 559001_43598135)_( 43648622_43746596) del	GRCh38.p12	First Pass	NC_000015.10	Chr15	43,559,001	43,598,135	43,648,622	43,746,596
nssv17956016	Submitted genomic		NC_000015.9:g.(438 51199_43890333)_(4 3940820_44038794)d el	GRCh37 (hg19)		NC_000015.9	Chr15	43,851,199	43,890,333	43,940,820	44,038,794
nssv17956031	Submitted genomic		NC_000015.9:g.(438 51199_43890333)_(4 3940820_44038794)d el	GRCh37 (hg19)		NC_000015.9	Chr15	43,851,199	43,890,333	43,940,820	44,038,794

No validation data were submitted for this variant

Clinical Assertions There exist variant calls with the same type and copy number with different clinical interpretation.

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17956016	GRCh37: NC_000015.9:g.(43851199_43890333)_(43940820_44038794)del	deletion	inherited	CATSPER-Related Male Infertility; DEAFNESS-INFERTILITY SYNDROME; DIS; Deafness-infertility syndrome; Deafness-infertility syndrome	Pathogenic	ClinVar	RCV001799522.1, VCV001174526.2
nssv17956031	GRCh37: NC_000015.9:g.(43851199_43890333)_(43940820_44038794)del	deletion	inherited	Autosomal recessive non syndromic sensorineural deafness type DFNB; DEAFNESS, AUTOSOMAL RECESSIVE 16; DFNB16; Deafness, autosomal recessive 16	Likely pathogenic	ClinVar	RCV001806220.1, VCV001174526.2

No genotype data were submitted for this variant

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