A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5534519



Internal ID310309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:66736934..66736961hg38UCSC Ensembl
chr8:67649169..67649196hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17011770
Samples
Known GenesC8orf44-SGK3, SGK3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5534519
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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