A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3245458



Internal ID22376148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:68039761..68084146hg38UCSC Ensembl
Outerchr17:66035877..66080273hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg381161
hg191161
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262211, nssv14262207, nssv14262210, nssv14262206, nssv14262205, nssv14262209, nssv14262208
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00514
Known GenesKPNA2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3245458
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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