A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581216



Internal ID16021939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:25196822..25364982hg38UCSC Ensembl
Innerchr2:25419691..25587851hg19UCSC Ensembl
Innerchr2:25273195..25441355hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38168161
hg19168161
hg18168161
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv904535
Samples
Known GenesDNMT3A, MIR1301
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581216
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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