A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv795817



Internal ID15743087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:48965097..49085029hg38UCSC Ensembl
Innerchr12:49358880..49478812hg19UCSC Ensembl
Innerchr12:47645147..47765079hg18UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38119933
hg19119933
hg18119933
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv558833
Supporting Variants
Samples
Known GenesDDN, KMT2D, PRKAG1, RHEBL1, WNT1, WNT10B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv795817
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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