A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559750



Internal ID16000473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:91109484..91216045hg38UCSC Ensembl
Innerchr12:91503261..91609822hg19UCSC Ensembl
Innerchr12:90027392..90133953hg18UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg38106562
hg19106562
hg18106562
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2784n54
Supporting Variantsnssv1175733
SamplesHGDP00155
Known GenesDCN, LUM
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559750
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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