A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17015376



Internal ID77906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:125271778..125569813hg38UCSC Ensembl
chr8:126284020..126582057hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38298036
hg19298038
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5481671
Supporting Variants
Samples
Known GenesNSMCE2, TRIB1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17015376
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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