A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16931923



Internal ID22009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:42718482..42722732hg38UCSC Ensembl
chr3:42759974..42764224hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg384251
hg194251
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5439768
Supporting Variants
Samples
Known GenesCCDC13
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16931923
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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