A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5477306



Internal ID254892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:79510368..79532368hg38UCSC Ensembl
chr10:81270124..81292124hg19UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg3822001
hg1922001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17038627
Samples
Known GenesEIF5AL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5477306
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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