A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584790



Internal ID16372199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:239400622..239401471hg38UCSC Ensembl
Innerchr2:240322316..240323165hg19UCSC Ensembl
Innerchr2:239987253..239988102hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38850
hg19850
hg18850
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7356n54
Supporting Variantsnssv933811
Samples
Known GenesHDAC4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584790
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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