A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5418898



Internal ID198052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:41093219..41093270hg38UCSC Ensembl
chr22:41489223..41489274hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17729121
Samples
Known GenesEP300
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5418898
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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