A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5469056



Internal ID246849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:34921635..34942928hg38UCSC Ensembl
chr5:34921740..34943033hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3821294
hg1921294
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16964235
Samples
Known GenesBRIX1, DNAJC21
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5469056
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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