A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5444549



Internal ID222919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:84909586..84910028hg38UCSC Ensembl
chr2:85136710..85137152hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38443
hg19443
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16917299
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5444549
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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