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dbVar

Database of genomic structural variation

nsv6137754

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:27,569

Description:Single allele AND not provided

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: 211 SVs from 36 studies. See in: genome view

Remapped(Score: Perfect):32,126,938-32,154,506

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6137754	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	32,126,938	32,154,506
nsv6137754	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	32,352,007	32,379,575

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17683543	deletion	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001663764.2, VCV001256422.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17683543	Remapped	Perfect	NC_000002.12:g.(?_ 32126938)_(3215450 6_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	32,126,938	32,154,506
nssv17683543	Submitted genomic		NC_000002.11:g.(?_ 32352007)_(3237957 5_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	32,352,007	32,379,575

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
nssv17683543	GRCh37: NC_000002.11:g.(?_32352007)_(32379575_?)del	deletion	unknown	not provided	Pathogenic	ClinVar	RCV001663764.2, VCV001256422.2

No genotype data were submitted for this variant

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