A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv793669



Internal ID16087625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:39908779..39918694hg38UCSC Ensembl
Innerchr12:40302581..40312496hg19UCSC Ensembl
Innerchr12:38588848..38598763hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg389916
hg199916
hg189916
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv558595
Supporting Variants
Samples
Known GenesSLC2A13
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv793669
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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