A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223627



Internal ID22367334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:160576633..160598825hg38UCSC Ensembl
Outerchr2:161433144..161455336hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg381182
hg191182
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265753, nssv14265755, nssv14265752, nssv14265754
SamplesHG00731, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223627
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer