A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5429054



Internal ID207912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:62259616..62259667hg38UCSC Ensembl
chr18:59926849..59926900hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17718742
Samples
Known GenesKIAA1468
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5429054
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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