A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17008257



Internal ID73136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:11214922..11214973hg38UCSC Ensembl
chr8:11072431..11072482hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5394139
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17008257
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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