A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3240655



Internal ID22374757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:18328672..18363671hg38UCSC Ensembl
Outerchr19:18439482..18474481hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg385228
hg195228
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263255
SamplesHG00513
Known GenesPGPEP1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3240655
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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