A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5472253



Internal ID249969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138321487..138332645hg38UCSC Ensembl
chr5:137657176..137668334hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3811159
hg1911159
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16974050
Samples
Known GenesCDC25C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5472253
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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