A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5487583



Internal ID264917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:52351491..52636585hg38UCSC Ensembl
chr8:53264051..53549145hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38285095
hg19285095
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17011013
Samples
Known GenesFAM150A, RB1CC1, ST18
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5487583
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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