A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5527734



Internal ID303819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:75086469..75086543hg38UCSC Ensembl
chr18:72798425..72798499hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17719524
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5527734
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer