A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5529035



Internal ID305071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:58576375..58576465hg38UCSC Ensembl
chr18:56243607..56243697hg19UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17718530
Samples
Known GenesALPK2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5529035
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