A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260817



Internal ID22315772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:67291592..67299783hg38UCSC Ensembl
Outerchr17:65287708..65295899hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg388192
hg198192
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212632
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260817
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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