A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5493903



Internal ID271066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:83144639..83246661hg38UCSC Ensembl
chr9:85759554..85861576hg19UCSC Ensembl
Cytoband9q21.32
Allele length
AssemblyAllele length
hg38102023
hg19102023
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17025365
Samples
Known GenesFRMD3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5493903
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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