A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561109



Internal ID16001832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132618549..132626173hg38UCSC Ensembl
Innerchr12:133195135..133202759hg19UCSC Ensembl
Innerchr12:131705208..131712832hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg387625
hg197625
hg187625
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv805915
Samples
Known GenesP2RX2, POLE
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv561109
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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