A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518184



Internal ID15098791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:12763161..13364025hg38UCSC Ensembl
Innerchr20:12743808..13344672hg19UCSC Ensembl
Innerchr20:12691808..13292672hg18UCSC Ensembl
Innerchr20:12691808..13292672hg17UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38600865
hg19600865
hg18600865
hg17600865
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695606
Samples
Known GenesISM1, ISM1-AS1, SPTLC3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518184
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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