A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17012424



Internal ID75958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:58496467..58496578hg38UCSC Ensembl
chr8:59409026..59409137hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38112
hg19112
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5477574
Supporting Variants
Samples
Known GenesCYP7A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17012424
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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