A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581226



Internal ID16021949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:25340583..25342670hg38UCSC Ensembl
Innerchr2:25563452..25565539hg19UCSC Ensembl
Innerchr2:25416956..25419043hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg382088
hg192088
hg182088
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6741n54
Supporting Variantsnssv904556, nssv904554, nssv904555, nssv904559, nssv904558, nssv904557
Samples
Known GenesDNMT3A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581226
Frequency
Sample Size17421
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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