A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5480265



Internal ID257774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:65796138..65806461hg38UCSC Ensembl
chr8:66708373..66718696hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg3810324
hg1910324
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17013689
Samples
Known GenesPDE7A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5480265
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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