A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5476557



Internal ID254163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:124639120..124681521hg38UCSC Ensembl
chr8:125651361..125693762hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3842402
hg1942402
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17017140
Samples
Known GenesMTSS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5476557
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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