A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16910358



Internal ID7680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:27831211..27831211hg38UCSC Ensembl
chr2:28054078..28054078hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5547483
Supporting Variants
Samples
Known GenesRBKS
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16910358
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.073516


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