A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558601



Internal ID16346010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:40409038..40431115hg38UCSC Ensembl
Innerchr12:40802840..40824917hg19UCSC Ensembl
Innerchr12:39089107..39111184hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3822078
hg1922078
hg1822078
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2576n54
Supporting Variantsnssv1175469
SamplesHGDP00045
Known GenesMUC19
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558601
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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