A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5478894



Internal ID256440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:129044651..129046877hg38UCSC Ensembl
chr9:131806930..131809156hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg382227
hg192227
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17028046
Samples
Known GenesFAM73B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5478894
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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