A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263627



Internal ID22284601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54218182..54304611hg38UCSC Ensembl
Outerchr19:54722051..54815886hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3819402
hg1919402
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3232360
Supporting Variants
SamplesNA19239
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)nssv14263627
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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