A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221196



Internal ID22365661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:32958119..32983065hg38UCSC Ensembl
Outerchr5:32958225..32983171hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg381091
hg191091
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275770, nssv14275772, nssv14275769, nssv14275768, nssv14275771, nssv14275767
SamplesHG00512, NA19238, HG00732, NA19240, HG00733, HG00513
Known GenesLOC340113
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221196
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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