A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5485743



Internal ID263126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:66683089..66686870hg38UCSC Ensembl
chr8:67595324..67599105hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg383782
hg193782
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17013753
Samples
Known GenesC8orf44-SGK3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5485743
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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