A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3240219



Internal ID22374640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:28883726..28893973hg38UCSC Ensembl
Outerchr19:29374633..29384880hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg38430
hg19430
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264044, nssv14264043
SamplesNA19239, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3240219
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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