A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518957



Internal ID15099564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:1215140..1269819hg38UCSC Ensembl
Innerchr20:1195784..1250463hg19UCSC Ensembl
Innerchr20:1143784..1198463hg18UCSC Ensembl
Innerchr20:1143784..1198463hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3854680
hg1954680
hg1854680
hg1754680
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696424
Samples
Known GenesRAD21L1, SNPH
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518957
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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