A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558602



Internal ID16346011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:40409038..40431685hg38UCSC Ensembl
Innerchr12:40802840..40825487hg19UCSC Ensembl
Innerchr12:39089107..39111754hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3822648
hg1922648
hg1822648
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2576n54
Supporting Variantsnssv793676
Samples
Known GenesMUC19
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558602
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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