A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5418985



Internal ID198135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:28524138..28524189hg38UCSC Ensembl
chr22:28920126..28920177hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17728299
Samples
Known GenesTTC28
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5418985
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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