A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694288



Internal ID15084254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:79657910..79660704hg38UCSC Ensembl
Innerchr2:79885036..79887830hg19UCSC Ensembl
Innerchr2:79738544..79741338hg18UCSC Ensembl
Innerchr2:79796691..79799485hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg382795
hg192795
hg182795
hg172795
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv518912
Supporting Variants
Samples
Known GenesCTNNA2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694288
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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