A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213908



Internal ID22360710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:232985532..232998188hg38UCSC Ensembl
Outerchr2:233850242..233862898hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg381067
hg191067
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266197, nssv14266196, nssv14266195, nssv14266685, nssv14266198, nssv14266684
SamplesHG00512, NA19238, HG00731, HG00732, HG00513, HG00514
Known GenesNGEF
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213908
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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