A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17016393



Internal ID78582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:126310159..126310210hg38UCSC Ensembl
chr8:127322404..127322455hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg38272
hg19272
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5411738
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17016393
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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