A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5559460



Internal ID332493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:59331214..59331250hg38UCSC Ensembl
chr18:56998446..56998482hg19UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17718565
Samples
Known GenesLMAN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5559460
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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