A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17052069



Internal ID102563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:93482000..94038896hg38UCSC Ensembl
chr11:93215166..93772062hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg38556897
hg19556897
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5497804
Supporting Variants
Samples
Known GenesC11orf54, HEPHL1, KIAA1731, MED17, MIR1304, SCARNA9, SMCO4, SNORA1, SNORA18, SNORA25, SNORA32, SNORA40, SNORA8, SNORD5, SNORD6, TAF1D, VSTM5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17052069
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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