A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560016



Internal ID16347425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:101711350..101716327hg38UCSC Ensembl
Innerchr12:102105128..102110105hg19UCSC Ensembl
Innerchr12:100629259..100634236hg18UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg384978
hg194978
hg184978
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2836n54
Supporting Variantsnssv801735
Samples
Known GenesCHPT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560016
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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