A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17016529



Internal ID78678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:129324819..129328513hg38UCSC Ensembl
chr8:130337065..130340759hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg383695
hg193695
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5493152
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17016529
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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