A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5492124



Internal ID269345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:64399539..64408741hg38UCSC Ensembl
chr8:65312096..65321298hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg389203
hg199203
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17013593
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5492124
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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