A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7650n54



Internal ID20141074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:62315508..62394547hg38UCSC Ensembl
chr20:60890564..60969603hg19UCSC Ensembl
chr20:60323959..60402998hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3879040
hg1979040
hg1879040
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv586488, nsv586486
SamplesNINDS_119, HGDP00603
Known GenesCABLES2, LAMA5, MIR4758, RPS21
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7650n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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