A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5514105



Internal ID290607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:22461138..22461257hg38UCSC Ensembl
chr18:20041101..20041220hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17716606
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5514105
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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