A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584786



Internal ID16372195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:239400274..239401522hg38UCSC Ensembl
Innerchr2:240321968..240323216hg19UCSC Ensembl
Innerchr2:239986905..239988153hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381249
hg191249
hg181249
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7354n54
Supporting Variantsnssv933801, nssv933802, nssv933804, nssv933803, nssv933806, nssv933805
Samples
Known GenesHDAC4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584786
Frequency
Sample Size17421
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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