A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220965



Internal ID22365505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:79179952..79185800hg38UCSC Ensembl
Outerchr5:78475775..78481623hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38947
hg19947
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275936
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220965
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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