A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5438339



Internal ID216907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:185571100..185625574hg38UCSC Ensembl
chr3:185288888..185343362hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg3854475
hg1954475
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16944794
Samples
Known GenesSENP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5438339
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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