A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560267



Internal ID16000990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:113115603..113166364hg38UCSC Ensembl
Innerchr12:113553408..113604169hg19UCSC Ensembl
Innerchr12:112037791..112088552hg18UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg3850762
hg1950762
hg1850762
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2884n54
Supporting Variantsnssv802728
Samples
Known GenesCCDC42B, DDX54, MIR7106, RASAL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560267
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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