A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5423129



Internal ID202154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:3437649..3437972hg38UCSC Ensembl
chr1:3354213..3354536hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16902857
Samples
Known GenesPRDM16
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5423129
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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