A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5522116



Internal ID298389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8747078..8761401hg38UCSC Ensembl
chr17:8650396..8664719hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3814324
hg1914324
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711286
Samples
Known GenesSPDYE4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5522116
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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