A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230160



Internal ID22371774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:133615357..133627308hg38UCSC Ensembl
Outerchr5:132951048..132962999hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg381020
hg191020
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275249, nssv14275246, nssv14275251, nssv14275248, nssv14275250, nssv14275245, nssv14275247
SamplesHG00512, NA19239, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230160
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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