A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5447718



Internal ID226011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:200420300..200420379hg38UCSC Ensembl
chr2:201285023..201285102hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16922827
Samples
Known GenesSPATS2L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5447718
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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