A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5444424



Internal ID222795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:87634629..87645904hg38UCSC Ensembl
chr2:87934148..87945423hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3811276
hg1911276
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16916722
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5444424
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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