A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17044716



Internal ID97557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:19227529..19227580hg38UCSC Ensembl
chr11:19249076..19249127hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5399672
Supporting Variants
Samples
Known GenesE2F8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17044716
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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