A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274880



Internal ID22262547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:42141496..42175028hg38UCSC Ensembl
Outerchr5:42141598..42175130hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3833533
hg1933533
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3202936
Supporting Variants
SamplesNA19238
Known GenesLOC101926960
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274880
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