A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5439231



Internal ID217771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:57591309..57612809hg38UCSC Ensembl
chr2:57818444..57839944hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3821501
hg1921501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16913493
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5439231
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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