A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5400688



Internal ID180068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138325563..138325614hg38UCSC Ensembl
chr5:137661252..137661303hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16974052
Samples
Known GenesCDC25C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5400688
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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