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dbVar

Database of genomic structural variation

nsv6305560

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:4,571

Description:nsv5482788 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: 90 SVs from 19 studies. See in: genome view

Remapped(Score: Perfect):32,351,862-32,356,432

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6305560	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	32,351,862	32,356,432
nsv6305560	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	32,640,790	32,645,360

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17656031	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17656031	Remapped	Perfect	NC_000010.11:g.323 51862_32356432del	GRCh38.p12	First Pass	NC_000010.11	Chr10	32,351,862	32,356,432
nssv17656031	Submitted genomic		NC_000010.10:g.326 40790_32645360del	GRCh37 (hg19)		NC_000010.10	Chr10	32,640,790	32,645,360

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)
nssv17656031	0.484	2907	6004

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