A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17010927



Internal ID74927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:49150160..49150620hg38UCSC Ensembl
chr8:50062719..50063179hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38461
hg19461
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5475505
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17010927
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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