A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5438350



Internal ID216918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:214234293..214258166hg38UCSC Ensembl
chr2:215099017..215122890hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3823874
hg1923874
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16924940
Samples
Known GenesSPAG16
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5438350
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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