A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584789



Internal ID16372198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:239400622..239401369hg38UCSC Ensembl
Innerchr2:240322316..240323063hg19UCSC Ensembl
Innerchr2:239987253..239988000hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38748
hg19748
hg18748
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7356n54
Supporting Variantsnssv933810
Samples
Known GenesHDAC4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584789
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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