A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5476017



Internal ID253639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:55808595..55967439hg38UCSC Ensembl
chr8:56721154..56879998hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38158845
hg19158845
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17012396
Samples
Known GenesLYN, TGS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5476017
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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