A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv787399



Internal ID16081355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7851162..7938107hg38UCSC Ensembl
Innerchr12:8003758..8090703hg19UCSC Ensembl
Innerchr12:7895025..7981970hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3886946
hg1986946
hg1886946
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv557309
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)nssv787399
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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