A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223498



Internal ID22367248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111256151..111258700hg38UCSC Ensembl
chr12:111693955..111696504hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg382550
hg192550
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1993n152
Supporting Variantsnssv14366366, nssv14366367, nssv14366363, nssv14366362, nssv14366365, nssv14366359, nssv14366361, nssv14366364, nssv14366360
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCUX2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223498
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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