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dbVar

Database of genomic structural variation

nsv6121604

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:959

Description:nsv5499369 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: 161 SVs from 45 studies. See in: genome view

Remapped(Score: Perfect):109,661,306-109,662,264

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6121604	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	109,661,306	109,662,264
nsv6121604	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	110,099,111	110,100,069

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17962387	duplication	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17962387	Remapped	Perfect	NC_000012.12:g.109 661306_109662264du p	GRCh38.p12	First Pass	NC_000012.12	Chr12	109,661,306	109,662,264
nssv17962387	Submitted genomic		NC_000012.11:g.110 099111_110100069du p	GRCh37 (hg19)		NC_000012.11	Chr12	110,099,111	110,100,069

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)
nssv17962387	0.949	6076	6404

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