A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196074



Internal ID22346150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:12528856..12528908hg38UCSC Ensembl
chr2:12668982..12669034hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4491n152
Supporting Variantsnssv14287745, nssv14287740, nssv14287744, nssv14287741, nssv14287742, nssv14287743
SamplesHG00512, NA19238, NA19239, NA19240, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196074
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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