A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5422116



Internal ID201168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:153636132..153668503hg38UCSC Ensembl
chr1:153608608..153640979hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3832372
hg1932372
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16890614
Samples
Known GenesCHTOP, ILF2, SNAPIN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5422116
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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