A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229368



Internal ID22371238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54219184..54297151hg38UCSC Ensembl
Outerchr19:54723053..54807761hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3877968
hg1984709
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263552, nssv14263553
SamplesNA19238, HG00513
Known GenesLILRA3, LILRA6, LILRB2, LILRB3, LILRB5, MIR4752
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229368
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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