A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17048416



Internal ID100151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:83041467..83041489hg38UCSC Ensembl
chr11:82752509..82752531hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5539615
Supporting Variants
Samples
Known GenesRAB30, SNORA70E
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17048416
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.007181


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