A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5527110



Internal ID303216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:49223915..49224066hg38UCSC Ensembl
chr17:47301277..47301428hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38152
hg19152
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17724634
Samples
Known GenesPHOSPHO1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5527110
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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