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dbVar

Database of genomic structural variation

nsv6128784

Organism: Homo sapiens

Study:nstd186 (NCBI Curated Common Structural Variants)
Variant Type:copy number variation
Method Type:Curated
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:2,296

Description:nsv5519331 from Byrska-Bishop et. al 2021. For a full list of variants now included in nstd186, refer to the mapping file provided here.

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: 274 SVs from 50 studies. See in: genome view

Remapped(Score: Perfect):60,334,421-60,336,716

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6128784	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	60,334,421	60,336,716
nsv6128784	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	58,411,782	58,414,077

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17958108	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17958108	Remapped	Perfect	NC_000017.11:g.603 34421_60336716del	GRCh38.p12	First Pass	NC_000017.11	Chr17	60,334,421	60,336,716
nssv17958108	Submitted genomic		NC_000017.10:g.584 11782_58414077del	GRCh37 (hg19)		NC_000017.10	Chr17	58,411,782	58,414,077

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv17958108	0.154	987	6404

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