A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217588



Internal ID22363200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:65932181..65946861hg38UCSC Ensembl
Outerchr4:66797899..66812579hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg384554
hg194554
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273964, nssv14273963, nssv14273965
SamplesHG00731, NA19240, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217588
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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