A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5519300



Internal ID295652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:46500226..46505369hg38UCSC Ensembl
chr18:44080189..44085332hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg385144
hg195144
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17717903
Samples
Known GenesLOXHD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5519300
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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