A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222485



Internal ID22366549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:1254612..1293803hg38UCSC Ensembl
Outerchr5:1254727..1293918hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg382323
hg192323
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275824, nssv14275825, nssv14275826
SamplesHG00512, HG00732, HG00733
Known GenesTERT
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222485
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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