A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5515716



Internal ID292194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:11840739..11856069hg38UCSC Ensembl
chr18:11840738..11856068hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3815331
hg1915331
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17716240
Samples
Known GenesCHMP1B, GNAL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5515716
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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