A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17053718



Internal ID103653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:130564273..130570364hg38UCSC Ensembl
chr11:130434168..130440259hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg386092
hg196092
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5513179
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17053718
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.004401


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