A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261513



Internal ID22264153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:80593354..80607420hg38UCSC Ensembl
Outerchr17:78567154..78581220hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3814067
hg1914067
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224583
Supporting Variants
SamplesNA19238
Known GenesRPTOR
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261513
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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