A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv789458



Internal ID15736728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:18229453..18350960hg38UCSC Ensembl
Innerchr12:18382387..18503894hg19UCSC Ensembl
Innerchr12:18273654..18395161hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38121508
hg19121508
hg18121508
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv557669
Supporting Variants
Samples
Known GenesPIK3C2G
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv789458
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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