A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17054160



Internal ID103936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27619923..27620026hg38UCSC Ensembl
chr12:27772856..27772959hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5511081
Supporting Variants
Samples
Known GenesPPFIBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17054160
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002498


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