A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv802729



Internal ID15749999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:113121067..113166364hg38UCSC Ensembl
Innerchr12:113558872..113604169hg19UCSC Ensembl
Innerchr12:112043255..112088552hg18UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg3845298
hg1945298
hg1845298
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv560268
Supporting Variants
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)nssv802729
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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