A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17016425



Internal ID78604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:127737925..127746764hg38UCSC Ensembl
chr8:128750171..128759010hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg388840
hg198840
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5477396
Supporting Variants
Samples
Known GenesMYC
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17016425
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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