A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5440933



Internal ID219425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:128675618..128681618hg38UCSC Ensembl
chr2:129433192..129439192hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16924072
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5440933
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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