A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18200249



Internal ID20767289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54220882..54278614hg38UCSC Ensembl
chr19:54724752..54782468hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3857733
hg1957717
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6522233
Supporting Variants
Samples
Known GenesLILRA6, LILRB2, LILRB3, LILRB5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18200249
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00056


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