A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5476290



Internal ID253904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:56523615..56523665hg38UCSC Ensembl
chr8:57436174..57436224hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17012667
Samples
Known GenesLINC00968
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5476290
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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