A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5493165



Internal ID270355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:137273280..137294410hg38UCSC Ensembl
chr9:140167732..140188862hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3821131
hg1921131
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17029653
Samples
Known GenesNELFB, TOR4A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5493165
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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