A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226466



Internal ID22369257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:149642947..149658919hg38UCSC Ensembl
Outerchr5:149022510..149038482hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276898, nssv14276902, nssv14276899, nssv14276900, nssv14276901
SamplesNA19238, NA19239, HG00731, HG00732, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226466
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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