A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518547



Internal ID15099154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:44897496..44942370hg38UCSC Ensembl
Innerchr20:43526137..43571011hg19UCSC Ensembl
Innerchr20:42959551..43004425hg18UCSC Ensembl
Innerchr20:42959551..43004425hg17UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3844875
hg1944875
hg1844875
hg1744875
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695990
Samples
Known GenesPABPC1L, TOMM34, YWHAB
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518547
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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