A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16890614



Internal ID167921
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 StatusS
Merged Variantsnsv5422116
Supporting Variants
Samples
Known GenesCHTOP, ILF2, SNAPIN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16890614
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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