A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3586972



Internal ID18885253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:239187328..239223680hg38UCSC Ensembl
Innerchr2:240109024..240145376hg19UCSC Ensembl
Innerchr2:239773961..239810313hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3836353
hg1936353
hg1836353
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1014488
Supporting Variants
Samples
Known GenesHDAC4, MGC16025
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3586972
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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