A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16911295



Internal ID8299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:26341838..26360941hg38UCSC Ensembl
chr2:26564706..26583809hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg3819104
hg1919104
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5437916
Supporting Variants
Samples
Known GenesEPT1, GPR113
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16911295
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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