A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17056546



Internal ID105517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:54942847..54948305hg38UCSC Ensembl
chr12:55336631..55342089hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg385459
hg195459
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5494797
Supporting Variants
Samples
Known GenesTESPA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17056546
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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