A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17042997



Internal ID96371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:16742727..16742778hg38UCSC Ensembl
chr11:16764274..16764325hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5404744
Supporting Variants
Samples
Known GenesC11orf58
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17042997
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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