A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3235324



Internal ID22373265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:1798404..1809333hg38UCSC Ensembl
Outerchr9:1798404..1809333hg19UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38879
hg19879
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14282249, nssv14282250, nssv14282251, nssv14282252, nssv14282253, nssv14282254
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3235324
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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