A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5454912



Internal ID233006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:62475020..62493628hg38UCSC Ensembl
chr4:63340738..63359346hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg3818609
hg1918609
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16950191
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5454912
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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