A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17007459



Internal ID72611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:13138514..13143077hg38UCSC Ensembl
chr8:12996023..13000586hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg384564
hg194564
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5491303
Supporting Variants
Samples
Known GenesDLC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17007459
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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