A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5519540



Internal ID295889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8808000..8813111hg38UCSC Ensembl
chr17:8711318..8716429hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg385112
hg195112
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711293
Samples
Known GenesPIK3R6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5519540
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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