A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16928313



Internal ID19576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:221462570..221462621hg38UCSC Ensembl
chr2:222327290..222327341hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5409634
Supporting Variants
Samples
Known GenesEPHA4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16928313
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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