A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215009



Internal ID22361479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:239786238..239818799hg38UCSC Ensembl
Outerchr2:240707932..240740493hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381799
hg191799
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265761, nssv14265760
SamplesHG00513, HG00514
Known GenesLOC150935
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215009
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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