A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581218



Internal ID16021941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:25295993..25390277hg38UCSC Ensembl
Innerchr2:25518862..25613146hg19UCSC Ensembl
Innerchr2:25372366..25466650hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg3894285
hg1994285
hg1894285
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv904537
Samples
Known GenesDNMT3A, DTNB, MIR1301
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581218
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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