A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17017458



Internal ID79289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:118701075..118778062hg38UCSC Ensembl
chr8:119713314..119790301hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg3876988
hg1976988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5483922
Supporting Variants
Samples
Known GenesSAMD12-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17017458
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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