A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223376



Internal ID22367165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:79126616..79132272hg38UCSC Ensembl
Outerchr5:78422439..78428095hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg382577
hg192577
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276224, nssv14276223, nssv14276225, nssv14276227, nssv14276228, nssv14276221, nssv14276229, nssv14276226, nssv14276222
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesBHMT
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223376
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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