A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5480329



Internal ID257837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:62406663..62446084hg38UCSC Ensembl
chr8:63319222..63358643hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg3839422
hg1939422
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17012848
Samples
Known GenesNKAIN3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5480329
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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