A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560026



Internal ID16347435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:101711851..101723371hg38UCSC Ensembl
Innerchr12:102105629..102117149hg19UCSC Ensembl
Innerchr12:100629760..100641280hg18UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg3811521
hg1911521
hg1811521
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2838n54
Supporting Variantsnssv801769
Samples
Known GenesCHPT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560026
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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