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dbVar

Database of genomic structural variation

nsv6121120

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:3,715

Description:nsv5500309 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: 273 SVs from 51 studies. See in: genome view

Remapped(Score: Perfect):111,538,490-111,542,204

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6121120	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	111,538,490	111,542,204
nsv6121120	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	111,976,294	111,980,008

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17968246	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17968246	Remapped	Perfect	NC_000012.12:g.111 538490_111542204de l	GRCh38.p12	First Pass	NC_000012.12	Chr12	111,538,490	111,542,204
nssv17968246	Submitted genomic		NC_000012.11:g.111 976294_111980008de l	GRCh37 (hg19)		NC_000012.11	Chr12	111,976,294	111,980,008

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)
nssv17968246	0.037	236	6404

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