A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558171



Internal ID15998894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:32134325..32406759hg38UCSC Ensembl
Innerchr12:32287259..32559693hg19UCSC Ensembl
Innerchr12:32178526..32450960hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38272435
hg19272435
hg18272435
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1176299
SamplesHGDP00466
Known GenesBICD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558171
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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