A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv524482



Internal ID15105089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:3138909..3158333hg38UCSC Ensembl
Innerchr20:3119555..3138979hg19UCSC Ensembl
Innerchr20:3067555..3086979hg18UCSC Ensembl
Innerchr20:3067555..3086979hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3819425
hg1919425
hg1819425
hg1719425
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv700420
Samples
Known GenesFASTKD5, UBOX5, UBOX5-AS1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv524482
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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