A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17013243



Internal ID76500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:94712957..94715978hg38UCSC Ensembl
chr8:95725185..95728206hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg383022
hg193022
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5490418
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17013243
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00609


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