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

dbVar

Database of genomic structural variation

nsv5996538

Organism: Homo sapiens

Study:nstd212 (Wu et al. 2021)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:370,371

Publication(s):Wu et al. 2021

Links to Other Resources

Overlapping Genes

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: 1467 SVs from 82 studies. See in: genome view

Submitted genomic178,809,644-179,180,014

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5996538	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000004.12	Chr4	178,809,644	179,180,014
nsv5996538	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	179,730,798	180,101,168

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17540882	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17540882	Submitted genomic		NC_000004.12:g.178 809644_179180014de l	GRCh38 (hg38)		NC_000004.12	Chr4	178,809,644	179,180,014
nssv17540882	Remapped	Perfect	NC_000004.11:g.179 730798_180101168de l	GRCh37.p13	First Pass	NC_000004.11	Chr4	179,730,798	180,101,168

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

You are here: NCBI