A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17048657



Internal ID100311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:78853069..78853120hg38UCSC Ensembl
chr11:78564114..78564165hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5408890
Supporting Variants
Samples
Known GenesTENM4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17048657
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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