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dbVar

Database of genomic structural variation

nsv6301197

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:42,501

Description:nsv5456696 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: 292 SVs from 58 studies. See in: genome view

Remapped(Score: Perfect):57,048,000-57,090,500

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6301197	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	57,048,000	57,090,500
nsv6301197	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	56,912,798	56,955,298

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17669527	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17669527	Remapped	Perfect	NC_000006.12:g.570 48000_57090500del	GRCh38.p12	First Pass	NC_000006.12	Chr6	57,048,000	57,090,500
nssv17669527	Submitted genomic		NC_000006.11:g.569 12798_56955298del	GRCh37 (hg19)		NC_000006.11	Chr6	56,912,798	56,955,298

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)
nssv17669527	0.272	1448	5332

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