A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17058677



Internal ID106981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53465679..53465730hg38UCSC Ensembl
chr12:53859463..53859514hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5424642
Supporting Variants
Samples
Known GenesPCBP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17058677
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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