A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17685712



Internal ID109378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132715272..132715580hg38UCSC Ensembl
chr12:133291858..133292166hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38309
hg19309
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5510374
Supporting Variants
Samples
Known GenesPGAM5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17685712
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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