A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17016714



Internal ID78798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:109592784..109592835hg38UCSC Ensembl
chr8:110605013..110605064hg19UCSC Ensembl
Cytoband8q23.2
Allele length
AssemblyAllele length
hg38115
hg19115
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5398627
Supporting Variants
Samples
Known GenesSYBU
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17016714
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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