A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260947



Internal ID22264063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:36189669..36460604hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38270936
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217301
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260947
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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