A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5426225



Internal ID205165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:62905978..62906029hg38UCSC Ensembl
chr18:60573211..60573262hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17718781
Samples
Known GenesPHLPP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5426225
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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