A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5428962



Internal ID207820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:28760453..28763025hg38UCSC Ensembl
chr1:29086965..29089537hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg382573
hg192573
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16900466
Samples
Known GenesYTHDF2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5428962
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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