A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5548433



Internal ID322186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:10348031..10348083hg38UCSC Ensembl
chr18:10348028..10348080hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17716208
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5548433
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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