A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219490



Internal ID22364499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:89867203..89878246hg38UCSC Ensembl
Outerchr6:90576922..90587965hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg382275
hg192275
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14279007, nssv14279008, nssv14279005, nssv14279006
SamplesHG00731, NA19240, HG00733, HG00514
Known GenesCASP8AP2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219490
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