A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17013613



Internal ID76748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:64639707..64639758hg38UCSC Ensembl
chr8:65552264..65552315hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5399679
Supporting Variants
Samples
Known GenesCYP7B1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17013613
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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