A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5440661



Internal ID219161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:48180017..48180200hg38UCSC Ensembl
chr3:48221507..48221690hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38184
hg19184
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16932678
Samples
Known GenesCDC25A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5440661
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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