A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5394978



Internal ID174404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:4623476..4623527hg38UCSC Ensembl
chr9:4623476..4623527hg19UCSC Ensembl
Cytoband9p24.1
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 Variantsnssv17018829
Samples
Known GenesSPATA6L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5394978
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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