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dbVar

Database of genomic structural variation

nsv997048

Organism: Homo sapiens

Study:nstd45 (ClinGen Curated Dosage Sensitivity Map-obsoleted)
Variant Type:copy number variation
Method Type:Curated
Submitted on:GRCh37 (hg19)

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:12,221

Description:SOX10; This gene was evaluated in the context of Waardenburg syndrome; it has also been implicated in other conditions.
Publication(s):Bondurand et al. 2007, Pingault et al. 1998, Riggs et al. 2011, Southard-Smith 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: 74 SVs from 18 studies. See in: genome view

Remapped(Score: Perfect):37,972,312-37,984,532

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv997048	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	37,972,312	37,984,532
nsv997048	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	38,368,319	38,380,539

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Copy number
nssv3442638	copy number loss	Curated	Curated	WAARDENBURG SYNDROME, TYPE 2E; WS2E; WAARDENBURG SYNDROME, TYPE 4C; WS4C	Pathogenic	ClinGen Dosage Sensitivity Map	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv3442638	Remapped	Perfect	NC_000022.11:g.(?_ 37972312)_(3798453 2_?)del	GRCh38.p12	First Pass	NC_000022.11	Chr22	37,972,312	37,984,532
nssv3442638	Submitted genomic		NC_000022.10:g.(?_ 38368319)_(3838053 9_?)del	GRCh37 (hg19)		NC_000022.10	Chr22	38,368,319	38,380,539

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Copy number
nssv3442638	GRCh37: NC_000022.10:g.(?_38368319)_(38380539_?)del	copy number loss	WAARDENBURG SYNDROME, TYPE 2E; WS2E; WAARDENBURG SYNDROME, TYPE 4C; WS4C	Pathogenic	ClinGen Dosage Sensitivity Map	1

No genotype data were submitted for this variant

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