A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223353



Internal ID22367149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:142128909..142147211hg38UCSC Ensembl
Outerchr6:142450046..142468348hg19UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg386088
hg196088
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278953, nssv14278952
SamplesNA19239, HG00731
Known GenesVTA1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223353
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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