A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16968450



Internal ID46282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:77320485..77322691hg38UCSC Ensembl
chr5:76616310..76618516hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg382207
hg192207
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5459174
Supporting Variants
Samples
Known GenesPDE8B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16968450
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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