A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558593



Internal ID16346002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:39885626..39923215hg38UCSC Ensembl
Innerchr12:40279428..40317017hg19UCSC Ensembl
Innerchr12:38565695..38603284hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3837590
hg1937590
hg1837590
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv793667
Samples
Known GenesSLC2A13
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558593
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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