A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448432



Internal ID226708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:102250041..102275791hg38UCSC Ensembl
chr2:102866501..102892251hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg3825751
hg1925751
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16916897
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448432
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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