A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248416



Internal ID22376979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:80349977..80352294hg38UCSC Ensembl
Outerchr15:80642319..80644636hg19UCSC Ensembl
Cytoband15q25.1
Allele length
AssemblyAllele length
hg3815045
hg1915045
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259657
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3248416
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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