A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560006



Internal ID16347415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:101703234..101714567hg38UCSC Ensembl
Innerchr12:102097012..102108345hg19UCSC Ensembl
Innerchr12:100621143..100632476hg18UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg3811334
hg1911334
hg1811334
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv801674
Samples
Known GenesCHPT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560006
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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