A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558175



Internal ID15998898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:32174241..32180645hg38UCSC Ensembl
Innerchr12:32327175..32333579hg19UCSC Ensembl
Innerchr12:32218442..32224846hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg386405
hg196405
hg186405
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2489n54
Supporting Variantsnssv791888
Samples
Known GenesBICD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558175
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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