A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5531938



Internal ID307874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:4880916..4897731hg38UCSC Ensembl
chr18:4880915..4897730hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg3816816
hg1916816
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17716017
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5531938
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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