A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451167



Internal ID229353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:121870483..122273973hg38UCSC Ensembl
chr2:122628059..123031549hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38403491
hg19403491
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16919869
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451167
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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