A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17009001



Internal ID73636
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 StatusS
Merged Variantsnsv5478997
Supporting Variants
Samples
Known GenesPSD3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17009001
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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