A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3209457



Internal ID22357532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:115420277..115427206hg38UCSC Ensembl
Outerchr5:114755974..114762903hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg386930
hg196930
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272649, nssv14272648, nssv14272647, nssv14272646
SamplesNA19238, HG00732, HG00733, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3209457
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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