A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5516046



Internal ID292515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:13128026..13135052hg38UCSC Ensembl
chr18:13128025..13135051hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg387027
hg197027
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17716357
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5516046
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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