A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5501814



Internal ID278704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:42857534..42984022hg38UCSC Ensembl
chr15:43149732..43276220hg19UCSC Ensembl
Cytoband15q15.2
Allele length
AssemblyAllele length
hg38126489
hg19126489
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17701981
Samples
Known GenesTTBK2, UBR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5501814
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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