A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17685071



Internal ID108737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122169498..122170414hg38UCSC Ensembl
chr12:122654045..122654961hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38917
hg19917
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5497826
Supporting Variants
Samples
Known GenesLRRC43
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17685071
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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