A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17689435



Internal ID113101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:79932883..79932934hg38UCSC Ensembl
chr12:80326663..80326714hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5425347
Supporting Variants
Samples
Known GenesPPP1R12A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17689435
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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