A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222559



Internal ID22366598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:133594501..133627308hg38UCSC Ensembl
Outerchr5:132930192..132962999hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg383607
hg193607
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276870, nssv14276869, nssv14276868
SamplesNA19238, HG00731, NA19240
Known GenesFSTL4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222559
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