A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560274



Internal ID16000997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:113823432..113830839hg38UCSC Ensembl
Innerchr12:114261237..114268644hg19UCSC Ensembl
Innerchr12:112745620..112753027hg18UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg387408
hg197408
hg187408
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv802734, nssv802735, nssv802736
Samples
Known GenesRBM19
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560274
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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