A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5483314



Internal ID260753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:109387458..109387599hg38UCSC Ensembl
chr9:112149738..112149879hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38142
hg19142
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17026714
Samples
Known GenesPTPN3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5483314
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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