A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16904812



Internal ID4030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40998426..40998429hg38UCSC Ensembl
chr1:41464098..41464101hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5539735
Supporting Variants
Samples
Known GenesCTPS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16904812
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.005308


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