A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5524060



Internal ID300272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:55455575..55460283hg38UCSC Ensembl
chr15:55747773..55752481hg19UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg384709
hg194709
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17701363
Samples
Known GenesDYX1C1, DYX1C1-CCPG1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5524060
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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