A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3014n54



Internal ID20136438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132148365..132150124hg38UCSC Ensembl
chr12:132632910..132634669hg19UCSC Ensembl
chr12:131198863..131200622hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381760
hg191760
hg181760
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv560947, nsv560948
Samples
Known GenesNOC4L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv3014n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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