A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16902478



Internal ID2463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:26562961..26565716hg38UCSC Ensembl
chr1:26889452..26892207hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg382756
hg192756
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5423467
Supporting Variants
Samples
Known GenesRPS6KA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16902478
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0406


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