A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558702



Internal ID16346111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:42621552..42633550hg38UCSC Ensembl
Innerchr12:43015354..43027352hg19UCSC Ensembl
Innerchr12:41301621..41313619hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3811999
hg1911999
hg1811999
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2596n54
Supporting Variantsnssv794061
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558702
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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