A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5478252



Internal ID255814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:93489734..93489824hg38UCSC Ensembl
chr9:96252016..96252106hg19UCSC Ensembl
Cytoband9q22.31
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17025716
Samples
Known GenesFAM120A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5478252
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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