Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv4637500

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:200

Description:nsv4530862 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: 125 SVs from 24 studies. See in: genome view

Remapped(Score: Perfect):4,930,486-4,930,685

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4637500	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	4,930,486	4,930,685
nsv4637500	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	4,833,781	4,833,980

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16168205	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16168205	Remapped	Perfect	NC_000017.11:g.493 0486_4930685del	GRCh38.p12	First Pass	NC_000017.11	Chr17	4,930,486	4,930,685
nssv16168205	Submitted genomic		NC_000017.10:g.483 3781_4833980del	GRCh37 (hg19)		NC_000017.10	Chr17	4,833,781	4,833,980

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)
nssv16168205	0.118	2549	21666

You are here: NCBI