A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263061



Internal ID22309489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:6056953..6072841hg38UCSC Ensembl
Outerchr19:6056964..6072852hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381354
hg191354
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3243343
Supporting Variants
SamplesNA19240
Known GenesRFX2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263061
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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