A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv586501



Internal ID16373910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:62444168..62577283hg38UCSC Ensembl
Innerchr20:61019224..61174490hg19UCSC Ensembl
Innerchr20:60452619..60584935hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38133116
hg19155267
hg18132317
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152393
SamplesHGDP01181
Known GenesC20orf166, C20orf166-AS1, GATA5, MIR1-1, MIR133A2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv586501
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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