A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997934



Internal ID19157470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:39246407..39523888hg38UCSC Ensembl
Innerchr2:39473548..39751029hg19UCSC Ensembl
Innerchr2:39327052..39604533hg18UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg38277482
hg19277482
hg18277482
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3725966
Samples
Known GenesLOC728730, MAP4K3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997934
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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