A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv680513



Internal ID15417165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:139420621..139447118hg38UCSC Ensembl
Innerchr2:140178191..140204688hg19UCSC Ensembl
Innerchr2:139894661..139921158hg18UCSC Ensembl
Innerchr2:140011923..140038420hg17UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3826498
hg1926498
hg1826498
hg1726498
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517622
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv680513
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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