A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3191918



Internal ID22342565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241546311..241546370hg38UCSC Ensembl
chr2:242485726..242485785hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5127n152
Supporting Variantsnssv14298852, nssv14298848, nssv14298850, nssv14298853, nssv14298849, nssv14298851
SamplesHG00512, NA19238, NA19239, NA19240, HG00513, HG00514
Known GenesBOK-AS1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3191918
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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