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dbVar

Database of genomic structural variation

nsv6306831

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:794,518

Description:nsv6146348 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: 5912 SVs from 121 studies. See in: genome view

Remapped(Score: Good):22,099,191-22,893,708

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6306831	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	22,099,191	22,893,708
nsv6306831	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	22,453,601	23,235,888

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17960278	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17960278	Remapped	Good	NC_000022.11:g.220 99191_22893708del	GRCh38.p12	First Pass	NC_000022.11	Chr22	22,099,191	22,893,708
nssv17960278	Submitted genomic		NC_000022.10:g.224 53601_23235888del	GRCh37 (hg19)		NC_000022.10	Chr22	22,453,601	23,235,888

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)
nssv17960278	0.043	271	6372

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