A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520337



Internal ID15447630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:71682233..71704901hg38UCSC Ensembl
Innerchr2:71909363..71932031hg19UCSC Ensembl
Innerchr2:71762871..71785539hg18UCSC Ensembl
Innerchr2:71821018..71843686hg17UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg3822669
hg1922669
hg1822669
hg1722669
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv663004, nssv683689
Samples
Known GenesDYSF
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520337
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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