A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263299



Internal ID22320841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:6330104..6334277hg38UCSC Ensembl
Outerchr19:6330115..6334288hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg384174
hg194174
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218095
Supporting Variants
SamplesNA19240
Known GenesACER1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263299
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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