A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5479229



Internal ID256759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:144946222..145078500hg38UCSC Ensembl
chr8:146171608..146303886hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38132279
hg19132279
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17019414
Samples
Known GenesC8orf33, TMED10P1, ZNF16, ZNF252P, ZNF252P-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5479229
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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