A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17011654



Internal ID75430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:53971983..53972066hg38UCSC Ensembl
chr8:54884543..54884626hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6141627
Supporting Variants
Samples
Known GenesTCEA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17011654
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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