A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv802753



Internal ID15750023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:113830344..113830839hg38UCSC Ensembl
Innerchr12:114268149..114268644hg19UCSC Ensembl
Innerchr12:112752532..112753027hg18UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg38496
hg19496
hg18496
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv560281
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)nssv802753
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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