A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5446995



Internal ID225309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:34570480..34728215hg38UCSC Ensembl
chr2:34795547..34953282hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38157736
hg19157736
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16912396
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5446995
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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