A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17021126



Internal ID81720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:8484625..8484668hg38UCSC Ensembl
chr9:8484625..8484668hg19UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5543592
Supporting Variants
Samples
Known GenesPTPRD
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17021126
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.108362


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