A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17688467



Internal ID112133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:133780000..133880364hg38UCSC Ensembl
chr11:133649895..133750259hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38100365
hg19100365
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5510703
Supporting Variants
Samples
Known GenesSPATA19
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17688467
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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