A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3190419



Internal ID22341284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:240966698..240984059hg38UCSC Ensembl
Outerchr2:241906115..241923476hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3817362
hg1917362
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5114n152
Supporting Variantsnssv14265423
SamplesHG00513
Known GenesLOC200772
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3190419
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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