A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5497804



Internal ID274828
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 StatusM
Merged Variants
Supporting Variantsnssv17052069
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)nsv5497804
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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