A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3241519



Internal ID22374994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:134702122..134762620hg38UCSC Ensembl
Outerchr9:137593968..137654466hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg382473
hg192473
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280706, nssv14280709, nssv14280711, nssv14280704, nssv14280705, nssv14280708, nssv14289729, nssv14280707, nssv14280710
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCOL5A1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3241519
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