A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17050376



Internal ID101481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:116882019..116882172hg38UCSC Ensembl
chr11:116752735..116752888hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38154
hg19154
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5497688
Supporting Variants
Samples
Known GenesSIK3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17050376
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000781


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