A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445456



Internal ID223803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:42377547..42379120hg38UCSC Ensembl
chr2:42604687..42606260hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg381574
hg191574
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16912248
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445456
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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