A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5416627



Internal ID195848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149590587..149596587hg38UCSC Ensembl
chr1:148812648..148818591hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg386001
hg195944
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16890168
Samples
Known GenesLOC101929780
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5416627
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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