A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5477627



Internal ID255201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:78519166..78600971hg38UCSC Ensembl
chr8:79431401..79513206hg19UCSC Ensembl
Cytoband8q21.12
Allele length
AssemblyAllele length
hg3881806
hg1981806
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17012927
Samples
Known GenesPKIA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5477627
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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