A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv802750



Internal ID15750020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:113830291..113834744hg38UCSC Ensembl
Innerchr12:114268096..114272549hg19UCSC Ensembl
Innerchr12:112752479..112756932hg18UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg384454
hg194454
hg184454
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv560279
Supporting Variants
Samples
Known GenesRBM19
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv802750
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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