A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5462674



Internal ID240598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:124850482..124851615hg38UCSC Ensembl
chr5:124186175..124187308hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg381134
hg191134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16972913
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5462674
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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