A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5477967



Internal ID255531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:103396306..103399860hg38UCSC Ensembl
chr8:104408534..104412088hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg383555
hg193555
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17014299
Samples
Known GenesSLC25A32
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5477967
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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