A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17012393



Internal ID75937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:55791095..55795246hg38UCSC Ensembl
chr8:56703654..56707805hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg384152
hg194152
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5485655
Supporting Variants
Samples
Known GenesTGS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17012393
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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