A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18200247



Internal ID20767287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54220625..54337041hg38UCSC Ensembl
chr19:54724495..54848312hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38116417
hg19123818
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6532282
Supporting Variants
Samples
Known GenesLILRA3, LILRA4, LILRA5, LILRA6, LILRB2, LILRB3, LILRB5, MIR4752
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18200247
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00094


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