A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5478997



Internal ID256538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:18717164..18838759hg38UCSC Ensembl
chr8:18574674..18696269hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38121596
hg19121596
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17009001
Samples
Known GenesPSD3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5478997
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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