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dbVar

Database of genomic structural variation

nsv6126277

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:187

Description:nsv5550835 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: 637 SVs from 51 studies. See in: genome view

Remapped(Score: Perfect):19,260,393-19,260,579

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6126277	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	19,260,393	19,260,579
nsv6126277	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	19,247,916	19,248,102

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17960249	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17960249	Remapped	Perfect	NC_000022.11:g.192 60393_19260579del	GRCh38.p12	First Pass	NC_000022.11	Chr22	19,260,393	19,260,579
nssv17960249	Submitted genomic		NC_000022.10:g.192 47916_19248102del	GRCh37 (hg19)		NC_000022.10	Chr22	19,247,916	19,248,102

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)
nssv17960249	0.018	113	6404

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