A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5425574



Internal ID204534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:79922872..79922923hg38UCSC Ensembl
chr12:80316652..80316703hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17689434
Samples
Known GenesPPP1R12A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5425574
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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