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dbVar

Database of genomic structural variation

nsv6121607

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:382

Description:nsv5498467 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: 91 SVs from 28 studies. See in: genome view

Remapped(Score: Perfect):51,079,622-51,080,003

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6121607	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	51,079,622	51,080,003
nsv6121607	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	51,473,405	51,473,786

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17674848	duplication	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17674848	Remapped	Perfect	NC_000012.12:g.510 79622_51080003dup	GRCh38.p12	First Pass	NC_000012.12	Chr12	51,079,622	51,080,003
nssv17674848	Submitted genomic		NC_000012.11:g.514 73405_51473786dup	GRCh37 (hg19)		NC_000012.11	Chr12	51,473,405	51,473,786

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)
nssv17674848	0.044	279	6404

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