A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv787378



Internal ID16081334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7848316..7950607hg38UCSC Ensembl
Innerchr12:8000912..8103203hg19UCSC Ensembl
Innerchr12:7892179..7994470hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38102292
hg19102292
hg18102292
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv557303
Supporting Variants
Samples
Known GenesSLC2A14, SLC2A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv787378
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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