A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221313



Internal ID22365741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:126129676..126171795hg38UCSC Ensembl
Outerchr5:125465369..125507488hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg381030
hg191030
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7516n152
Supporting Variantsnssv14275319, nssv14275320, nssv14275321
SamplesHG00732, NA19240, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221313
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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