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dbVar

Database of genomic structural variation

nsv7137005

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:1,157

Description:NC_000006.11:g.(32007026_32007132)_(32007983_3
2008182)del AND Congenital adrenal hyperplasia

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: 328 SVs from 52 studies. See in: genome view

Remapped(Score: Perfect):32,039,249-32,040,405

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
nsv7137005	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	32,039,249	32,039,355	32,040,206	32,040,405
nsv7137005	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	32,007,026	32,007,132	32,007,983	32,008,182

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18830866	deletion	Multiple	Multiple	Congenital adrenal hyperplasia; Congenital adrenal hyperplasia	Likely pathogenic	ClinVar	RCV003230923.1, VCV002503932.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv18830866	Remapped	Perfect	NC_000006.12:g.(32 039249_32039355)_( 32040206_32040405) del	GRCh38.p12	First Pass	NC_000006.12	Chr6	32,039,249	32,039,355	32,040,206	32,040,405
nssv18830866	Submitted genomic		NC_000006.11:g.(32 007026_32007132)_( 32007983_32008182) del	GRCh37 (hg19)		NC_000006.11	Chr6	32,007,026	32,007,132	32,007,983	32,008,182

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
nssv18830866	GRCh37: NC_000006.11:g.(32007026_32007132)_(32007983_32008182)del	deletion	germline	Congenital adrenal hyperplasia; Congenital adrenal hyperplasia	Likely pathogenic	ClinVar	RCV003230923.1, VCV002503932.1

No genotype data were submitted for this variant

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