A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236563



Internal ID22373619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:55196369..55217308hg38UCSC Ensembl
Outerchr19:55707737..55728676hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38835
hg19835
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263636, nssv14263635, nssv14263637, nssv14263634
SamplesHG00512, NA19239, HG00731, HG00513
Known GenesPTPRH
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236563
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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