A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17013365



Internal ID76582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:80637650..80637701hg38UCSC Ensembl
chr8:81549885..81549936hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5403283
Supporting Variants
Samples
Known GenesZNF704
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17013365
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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