A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17046412



Internal ID98743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:70204005..70204056hg38UCSC Ensembl
chr11:70050111..70050162hg19UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5399705
Supporting Variants
Samples
Known GenesFADD
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17046412
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001561


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