A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5479988



Internal ID257501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:123352151..123352277hg38UCSC Ensembl
chr8:124364391..124364517hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17018533
Samples
Known GenesATAD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5479988
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer