A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv585333



Internal ID16372742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:5806690..5847729hg38UCSC Ensembl
Innerchr20:5787336..5828375hg19UCSC Ensembl
Innerchr20:5735336..5776375hg18UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg3841040
hg1941040
hg1841040
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7449n54
Supporting Variantsnssv937461, nssv1152356
SamplesHGDP00983
Known GenesC20orf196
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv585333
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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