A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16912063



Internal ID8798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:32422171..32893171hg38UCSC Ensembl
chr2:32647239..33118238hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38471001
hg19471000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5445769
Supporting Variants
Samples
Known GenesBIRC6, LINC00486, MIR4765, MIR558, TTC27
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16912063
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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