A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv787370



Internal ID16081326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7847740..8019242hg38UCSC Ensembl
Innerchr12:8000336..8171838hg19UCSC Ensembl
Innerchr12:7891603..8063105hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38171503
hg19171503
hg18171503
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv557298
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)nssv787370
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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