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dbVar

Database of genomic structural variation

nsv5385876

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:228

Description:nsv4844750 from Abel et. al 2020. 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: 111 SVs from 33 studies. See in: genome view

Remapped(Score: Perfect):52,302,256-52,302,483

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5385876	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	52,302,256	52,302,483
nsv5385876	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	54,062,016	54,062,243

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16873609	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16873609	Remapped	Perfect	NC_000010.11:g.523 02256_52302483del	GRCh38.p12	First Pass	NC_000010.11	Chr10	52,302,256	52,302,483
nssv16873609	Submitted genomic		NC_000010.10:g.540 62016_54062243del	GRCh37 (hg19)		NC_000010.10	Chr10	54,062,016	54,062,243

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)
nssv16873609	0.122	2058	16834

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