A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217639



Internal ID22363231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:1855637..1869651hg38UCSC Ensembl
Outerchr5:1855751..1869765hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38870
hg19870
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275114, nssv14275115, nssv14275113
SamplesHG00512, NA19238, HG00731
Known GenesLOC101929034
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217639
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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