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

dbVar

Database of genomic structural variation

nsv5382140

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:324

Description:nsv4788211 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: 226 SVs from 44 studies. See in: genome view

Remapped(Score: Perfect):965,072-965,395

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5382140	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	965,072	965,395
nsv5382140	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	960,758	961,081

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16877373	duplication	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16877373	Remapped	Perfect	NC_000002.12:g.965 072_965395dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	965,072	965,395
nssv16877373	Submitted genomic		NC_000002.11:g.960 758_961081dup	GRCh37 (hg19)		NC_000002.11	Chr2	960,758	961,081

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)
nssv16877373	0.343	5773	16834

You are here: NCBI