A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450622



Internal ID228823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:165484829..165485102hg38UCSC Ensembl
chr2:166341339..166341612hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38274
hg19274
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16921752
Samples
Known GenesCSRNP3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450622
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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