A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226659



Internal ID22369382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:6773776..6784598hg38UCSC Ensembl
Outerchr5:6773889..6784711hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg38905
hg19905
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275840, nssv14275841
SamplesHG00512, HG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226659
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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