A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3233698



Internal ID22372824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:4471044..4502403hg38UCSC Ensembl
Outerchr19:4471041..4502415hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381231
hg191231
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263042, nssv14263041
SamplesNA19238, HG00732
Known GenesHDGFRP2, PLIN4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3233698
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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