A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5508559



Internal ID285246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:102733295..102736615hg38UCSC Ensembl
chr10:104493052..104496372hg19UCSC Ensembl
Cytoband10q24.32
Allele length
AssemblyAllele length
hg383321
hg193321
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17039947
Samples
Known GenesSFXN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5508559
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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