A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560169



Internal ID16000892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:111304418..111350598hg38UCSC Ensembl
Innerchr12:111742222..111788402hg19UCSC Ensembl
Innerchr12:110226605..110272785hg18UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg3846181
hg1946181
hg1846181
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1175890
SamplesNINDS_70
Known GenesCUX2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560169
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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