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dbVar

Database of genomic structural variation

nsv6124857

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:311

Description:nsv5521569 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: 140 SVs from 28 studies. See in: genome view

Remapped(Score: Perfect):33,747,333-33,747,643

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6124857	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000020.11	Chr20	33,747,333	33,747,643
nsv6124857	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000020.10	Chr20	32,335,139	32,335,449

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17959686	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17959686	Remapped	Perfect	NC_000020.11:g.337 47333_33747643del	GRCh38.p12	First Pass	NC_000020.11	Chr20	33,747,333	33,747,643
nssv17959686	Submitted genomic		NC_000020.10:g.323 35139_32335449del	GRCh37 (hg19)		NC_000020.10	Chr20	32,335,139	32,335,449

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)
nssv17959686	0.073	467	6404

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