A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv662276



Internal ID15398928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:71502925..71523377hg38UCSC Ensembl
Innerchr2:71730055..71750507hg19UCSC Ensembl
Innerchr2:71583563..71604015hg18UCSC Ensembl
Innerchr2:71641710..71662162hg17UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg3820453
hg1920453
hg1820453
hg1720453
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520271
Supporting Variants
Samples
Known GenesDYSF
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv662276
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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