A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242402



Internal ID22375267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:5486140..5501542hg38UCSC Ensembl
Outerchr19:5486151..5501553hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38561
hg19561
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263708, nssv14263707
SamplesHG00512, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3242402
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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