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dbVar

Database of genomic structural variation

nsv6117844

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:338

Description:nsv5439973 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: 125 SVs from 43 studies. See in: genome view

Remapped(Score: Perfect):131,958,962-131,959,299

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6117844	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	131,958,962	131,959,299
nsv6117844	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	131,677,806	131,678,143

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17663159	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17663159	Remapped	Perfect	NC_000003.12:g.131 958962_131959299de l	GRCh38.p12	First Pass	NC_000003.12	Chr3	131,958,962	131,959,299
nssv17663159	Submitted genomic		NC_000003.11:g.131 677806_131678143de l	GRCh37 (hg19)		NC_000003.11	Chr3	131,677,806	131,678,143

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)
nssv17663159	0.071	453	6404

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