A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17043550



Internal ID96757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:183000..248000hg38UCSC Ensembl
chr11:183000..248000hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3865001
hg1965001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6143285
Supporting Variants
Samples
Known GenesBET1L, LOC653486, MIR6743, ODF3, PSMD13, RIC8A, SCGB1C1, SIRT3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17043550
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000939


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