A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5522992



Internal ID299243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:61469676..61483461hg38UCSC Ensembl
chr18:59136909..59150694hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg3813786
hg1913786
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17718705
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5522992
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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