A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228406



Internal ID22370598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:178751783..178757416hg38UCSC Ensembl
Outerchr5:178178784..178184417hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg381026
hg191026
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274641, nssv14274638, nssv14274636, nssv14275283, nssv14274639, nssv14274640, nssv14274637
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00733, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228406
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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