A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260791



Internal ID22276103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:69347514..69357948hg38UCSC Ensembl
Outerchr17:67343655..67354089hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg3810435
hg1910435
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214231
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260791
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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