A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5532943



Internal ID308844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:48965836..48967093hg38UCSC Ensembl
chr18:46492206..46493463hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg381258
hg191258
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17718043
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5532943
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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