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

dbVar

Database of genomic structural variation

nsv4651253

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:86

Description:nsv4525335 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: 103 SVs from 28 studies. See in: genome view

Remapped(Score: Perfect):87,323,033-87,323,118

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4651253	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	87,323,033	87,323,118
nsv4651253	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	88,032,751	88,032,836

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16165797	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16165797	Remapped	Perfect	NC_000006.12:g.873 23033_87323118del	GRCh38.p12	First Pass	NC_000006.12	Chr6	87,323,033	87,323,118
nssv16165797	Submitted genomic		NC_000006.11:g.880 32751_88032836del	GRCh37 (hg19)		NC_000006.11	Chr6	88,032,751	88,032,836

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)
nssv16165797	0.057	1237	21636

You are here: NCBI