A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5435781



Internal ID214413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:180232261..180239214hg38UCSC Ensembl
chr2:181096988..181103941hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg386954
hg196954
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16922632
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5435781
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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