A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17845475



Internal ID22029118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:79916023..79916023hg38UCSC Ensembl
chr12:80309803..80309803hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6241276
Supporting Variants
Samples
Known GenesPPP1R12A
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17845475
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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