A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17048541



Internal ID100236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:76446360..76446371hg38UCSC Ensembl
chr11:76157404..76157415hg19UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5542837
Supporting Variants
Samples
Known GenesC11orf30
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17048541
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.158232


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