A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5493044



Internal ID270236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:49782700..49812807hg38UCSC Ensembl
chr8:50695260..50725367hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg3830108
hg1930108
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17010989
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5493044
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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