A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17013397



Internal ID76604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:80974155..80974584hg38UCSC Ensembl
chr8:81886390..81886819hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg38430
hg19430
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5480487
Supporting Variants
Samples
Known GenesPAG1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17013397
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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