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dbVar

Database of genomic structural variation

nsv6123606

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:325

Description:nsv5522347 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: 83 SVs from 29 studies. See in: genome view

Remapped(Score: Perfect):59,148,399-59,148,723

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6123606	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000020.11	Chr20	59,148,399	59,148,723
nsv6123606	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000020.10	Chr20	57,723,454	57,723,778

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17968309	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17968309	Remapped	Perfect	NC_000020.11:g.591 48399_59148723del	GRCh38.p12	First Pass	NC_000020.11	Chr20	59,148,399	59,148,723
nssv17968309	Submitted genomic		NC_000020.10:g.577 23454_57723778del	GRCh37 (hg19)		NC_000020.10	Chr20	57,723,454	57,723,778

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)
nssv17968309	0.086	545	6394

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