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dbVar

Database of genomic structural variation

nsv4635382

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:416

Description:nsv4531567 from gnomAD Structural Variants. 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: 141 SVs from 26 studies. See in: genome view

Remapped(Score: Perfect):50,766,757-50,767,172

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4635382	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	50,766,757	50,767,172
nsv4635382	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	48,844,118	48,844,533

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16168076	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16168076	Remapped	Perfect	NC_000017.11:g.507 66757_50767172del	GRCh38.p12	First Pass	NC_000017.11	Chr17	50,766,757	50,767,172
nssv16168076	Submitted genomic		NC_000017.10:g.488 44118_48844533del	GRCh37 (hg19)		NC_000017.10	Chr17	48,844,118	48,844,533

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)
nssv16168076	0.042	917	21690

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