A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211317



Internal ID22358912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:1270656..1342492hg38UCSC Ensembl
Outerchr5:1270771..1342607hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg383205
hg193205
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274759, nssv14274762, nssv14274760, nssv14274758, nssv14274756, nssv14274761
SamplesHG00512, NA19238, HG00731, HG00732, NA19240, HG00514
Known GenesCLPTM1L, MIR4457, TERT
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211317
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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