A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5481789



Internal ID259258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:56136160..56185980hg38UCSC Ensembl
chr8:57048719..57098539hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3849821
hg1949821
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17012643
Samples
Known GenesPLAG1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5481789
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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