A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17366227



Internal ID22591896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122210640..122210821hg38UCSC Ensembl
chr12:122695187..122695368hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38182
hg19182
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5946495
Supporting Variants
Samples
Known GenesDIABLO
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17366227
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.005


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