A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5518062



Internal ID294458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8905210..8905290hg38UCSC Ensembl
chr17:8808527..8808607hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711301
Samples
Known GenesPIK3R5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5518062
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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