A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5478729



Internal ID256276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:123070188..123074042hg38UCSC Ensembl
chr8:124082428..124086282hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg383855
hg193855
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17018520
Samples
Known GenesTBC1D31
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5478729
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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