A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17016652



Internal ID78758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:105121815..105121866hg38UCSC Ensembl
chr8:106134043..106134094hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5411654
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17016652
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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