A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224583



Internal ID22367968
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261515, nssv14261511, nssv14261512, nssv14261513, nssv14261510, nssv14261514
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733
Known GenesRPTOR
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224583
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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