A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218716



Internal ID22363973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:8805026..8818034hg38UCSC Ensembl
Outerchr17:8708344..8721352hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3813009
hg1913009
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260017, nssv14260018, nssv14260019
SamplesNA19238, HG00513, HG00514
Known GenesPIK3R6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218716
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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