A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5519393



Internal ID295743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:12278357..12278614hg38UCSC Ensembl
chr18:12278356..12278613hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38258
hg19258
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17716288
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5519393
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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