A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558596



Internal ID15999319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:40019896..40197315hg38UCSC Ensembl
Innerchr12:40413698..40591117hg19UCSC Ensembl
Innerchr12:38699965..38877384hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38177420
hg19177420
hg18177420
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv793670
Samples
Known GenesSLC2A13
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558596
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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