A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5523594



Internal ID299820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:26971590..26971663hg38UCSC Ensembl
chr18:24551554..24551627hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17716828
Samples
Known GenesCHST9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5523594
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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