A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv794058



Internal ID16088014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:41237303..41317110hg38UCSC Ensembl
Innerchr12:41631105..41710912hg19UCSC Ensembl
Innerchr12:39917372..39997179hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3879808
hg1979808
hg1879808
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv558699
Supporting Variants
Samples
Known GenesPDZRN4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv794058
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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