A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5532748



Internal ID308661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:40705072..40709734hg38UCSC Ensembl
chr18:38285036..38289698hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg384663
hg194663
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17717591
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5532748
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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