A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581217



Internal ID16021940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:25255584..25426307hg38UCSC Ensembl
Innerchr2:25478453..25649176hg19UCSC Ensembl
Innerchr2:25331957..25502680hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38170724
hg19170724
hg18170724
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv904536
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)nsv581217
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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