A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5415650



Internal ID194904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:1167338..1167389hg38UCSC Ensembl
chr20:1147982..1148033hg19UCSC Ensembl
Cytoband20p13
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 Variantsnssv17730240
Samples
Known GenesPSMF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5415650
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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