A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16932833



Internal ID22611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:56948811..56952275hg38UCSC Ensembl
chr3:56982839..56986303hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg383465
hg193465
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6139371
Supporting Variants
Samples
Known GenesARHGEF3, ARHGEF3-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16932833
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.004216


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer