A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16944811



Internal ID30545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:185806172..185806311hg38UCSC Ensembl
chr3:185523960..185524099hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg38140
hg19140
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5445122
Supporting Variants
Samples
Known GenesIGF2BP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16944811
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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