A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557298



Internal ID16344707
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 StatusM
Merged Variants
Supporting Variantsnssv787373, nssv787370, nssv787372, nssv787371
Samples
Known GenesSLC2A14, SLC2A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557298
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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