A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17057567



Internal ID106229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:54095510..54098614hg38UCSC Ensembl
chr12:54489294..54492398hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg383105
hg193105
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5498527
Supporting Variants
Samples
Known GenesFLJ12825
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17057567
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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