A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581219



Internal ID16021942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:25337065..25341381hg38UCSC Ensembl
Innerchr2:25559934..25564250hg19UCSC Ensembl
Innerchr2:25413438..25417754hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg384317
hg194317
hg184317
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv904538
Samples
Known GenesDNMT3A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581219
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer