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dbVar

Database of genomic structural variation

nsv6290201

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:187,622

Description:NC_000015.9:g.(43851199_43890391)_(?_44038820)
del AND Autosomal recessive nonsyndromic hearing loss 16
Publication(s):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):43,559,001-43,746,622

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Outer Stop
nsv6290201	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	43,559,001	43,598,193	43,746,622
nsv6290201	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000015.9	Chr15	43,851,199	43,890,391	44,038,820

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17956034	deletion	Multiple	Multiple	Autosomal recessive non syndromic sensorineural deafness type DFNB; DEAFNESS, AUTOSOMAL RECESSIVE 16; DFNB16; Deafness, autosomal recessive 16	Pathogenic	ClinVar	RCV001806224.1, VCV001175707.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Outer Stop
nssv17956034	Remapped	Perfect	NC_000015.10:g.(43 559001_43598193)_( ?_43746622)del	GRCh38.p12	First Pass	NC_000015.10	Chr15	43,559,001	43,598,193	43,746,622
nssv17956034	Submitted genomic		NC_000015.9:g.(438 51199_43890391)_(? _44038820)del	GRCh37 (hg19)		NC_000015.9	Chr15	43,851,199	43,890,391	44,038,820

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
nssv17956034	GRCh37: NC_000015.9:g.(43851199_43890391)_(?_44038820)del	deletion	inherited	Autosomal recessive non syndromic sensorineural deafness type DFNB; DEAFNESS, AUTOSOMAL RECESSIVE 16; DFNB16; Deafness, autosomal recessive 16	Pathogenic	ClinVar	RCV001806224.1, VCV001175707.1

No genotype data were submitted for this variant

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