A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv904541



Internal ID15851811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:25340219..25342496hg38UCSC Ensembl
Innerchr2:25563088..25565365hg19UCSC Ensembl
Innerchr2:25416592..25418869hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg382278
hg192278
hg182278
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv581221
Supporting Variants
Samples
Known GenesDNMT3A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv904541
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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