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

dbVar

Database of genomic structural variation

nsv5388756

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:3,303

Description:nsv4940702 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: 234 SVs from 45 studies. See in: genome view

Remapped(Score: Perfect):32,058,235-32,061,537

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5388756	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	32,058,235	32,061,537
nsv5388756	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	32,026,012	32,029,314

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16884692	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16884692	Remapped	Perfect	NC_000006.12:g.320 58235_32061537del	GRCh38.p12	First Pass	NC_000006.12	Chr6	32,058,235	32,061,537
nssv16884692	Submitted genomic		NC_000006.11:g.320 26012_32029314del	GRCh37 (hg19)		NC_000006.11	Chr6	32,026,012	32,029,314

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)
nssv16884692	0.011	315	29246

You are here: NCBI