A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5452344



Internal ID230499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:12337263..12343713hg38UCSC Ensembl
chr4:12338887..12345337hg19UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg386451
hg196451
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16945195
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5452344
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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