A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3201244



Internal ID22350580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237031108..237031350hg38UCSC Ensembl
chr2:237939751..237939993hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38243
hg19243
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5066n152
Supporting Variantsnssv14297292, nssv14297295, nssv14297296, nssv14297294, nssv14297293, nssv14297291
SamplesHG00512, NA19238, NA19239, NA19240, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3201244
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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