A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520271



Internal ID15447564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:71497232..71523377hg38UCSC Ensembl
Innerchr2:71724362..71750507hg19UCSC Ensembl
Innerchr2:71577870..71604015hg18UCSC Ensembl
Innerchr2:71636017..71662162hg17UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg3826146
hg1926146
hg1826146
hg1726146
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv662276, nssv681874
Samples
Known GenesDYSF
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520271
Frequency
Sample Size2026
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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