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dbVar

Database of genomic structural variation

nsv6302611

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:144,001

Description:nsv5475699 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: 477 SVs from 63 studies. See in: genome view

Remapped(Score: Perfect):79,534,368-79,678,368

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6302611	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	79,534,368	79,678,368
nsv6302611	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	81,294,124	81,438,124

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17656452	duplication	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17656452	Remapped	Perfect	NC_000010.11:g.795 34368_79678368dup	GRCh38.p12	First Pass	NC_000010.11	Chr10	79,534,368	79,678,368
nssv17656452	Submitted genomic		NC_000010.10:g.812 94124_81438124dup	GRCh37 (hg19)		NC_000010.10	Chr10	81,294,124	81,438,124

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)
nssv17656452	0.194	1244	6404

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