A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5446715



Internal ID225036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:58306665..58306755hg38UCSC Ensembl
chr3:58292392..58292482hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16933006
Samples
Known GenesRPP14
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5446715
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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