A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5434498



Internal ID213171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:12327163..12327273hg38UCSC Ensembl
chr2:12467289..12467399hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg38111
hg19111
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16909087
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5434498
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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