A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17718565



Internal ID142231
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 StatusS
Merged Variantsnsv5559460
Supporting Variants
Samples
Known GenesLMAN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17718565
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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