A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17017401



Internal ID79247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:116993163..116995927hg38UCSC Ensembl
chr8:118005402..118008166hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg382765
hg192765
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5486355
Supporting Variants
Samples
Known GenesSLC30A8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17017401
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.006556


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