A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18200248



Internal ID20767288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54220801..54236700hg38UCSC Ensembl
chr19:54724671..54740576hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3815900
hg1915906
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6521759
Supporting Variants
Samples
Known GenesLILRA6, LILRB3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18200248
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.24329


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