A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221625



Internal ID22365946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:17158188..17189930hg38UCSC Ensembl
Outerchr5:17158297..17190039hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg381281
hg191281
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275197, nssv14275196
SamplesNA19239, NA19240
Known GenesLOC285696
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221625
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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