A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581229



Internal ID16021952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:25340846..25342670hg38UCSC Ensembl
Innerchr2:25563715..25565539hg19UCSC Ensembl
Innerchr2:25417219..25419043hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg381825
hg191825
hg181825
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6741n54
Supporting Variantsnssv904570, nssv904569, nssv904568, nssv904565, nssv904566, nssv904564, nssv904567
Samples
Known GenesDNMT3A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581229
Frequency
Sample Size17421
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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