A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584788



Internal ID16372197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:239400325..239401967hg38UCSC Ensembl
Innerchr2:240322019..240323661hg19UCSC Ensembl
Innerchr2:239986956..239988598hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381643
hg191643
hg181643
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7355n54
Supporting Variantsnssv933809
Samples
Known GenesHDAC4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584788
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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