A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17049450



Internal ID100858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:102432857..102436754hg38UCSC Ensembl
chr11:102303588..102307485hg19UCSC Ensembl
Cytoband11q22.2
Allele length
AssemblyAllele length
hg383898
hg193898
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5498766
Supporting Variants
Samples
Known GenesTMEM123
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17049450
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.009366


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