A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260991



Internal ID22264369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:69409866..69411959hg38UCSC Ensembl
Outerchr17:67406007..67408100hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg382094
hg192094
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213396
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260991
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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