A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5521075



Internal ID297377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:26182761..26186251hg38UCSC Ensembl
chr18:23762725..23766215hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg383491
hg193491
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17716790
Samples
Known GenesPSMA8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5521075
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