A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3247393



Internal ID22376700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:59383859..59394428hg38UCSC Ensembl
Outerchr15:59676058..59686627hg19UCSC Ensembl
Cytoband15q22.2
Allele length
AssemblyAllele length
hg38570
hg19570
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259452, nssv14259454, nssv14259453
SamplesNA19239, HG00731, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3247393
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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