A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17016553



Internal ID78690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:131657853..131725137hg38UCSC Ensembl
chr8:132670100..132737384hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg3867285
hg1967285
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5490974
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17016553
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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