A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3586971



Internal ID18885252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:239186421..239224376hg38UCSC Ensembl
Innerchr2:240108117..240146072hg19UCSC Ensembl
Innerchr2:239773054..239811009hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3837956
hg1937956
hg1837956
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1006054
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)nssv3586971
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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