A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445548



Internal ID223895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:200356790..200356952hg38UCSC Ensembl
chr2:201221513..201221675hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38163
hg19163
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16923412
Samples
Known GenesSPATS2L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445548
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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