A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584791



Internal ID16372200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:239400622..239401522hg38UCSC Ensembl
Innerchr2:240322316..240323216hg19UCSC Ensembl
Innerchr2:239987253..239988153hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38901
hg19901
hg18901
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv933813, nssv933812, nssv933814
Samples
Known GenesHDAC4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584791
Frequency
Sample Size17421
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer