A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5402488



Internal ID181858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:80699445..80699496hg38UCSC Ensembl
chr8:81611680..81611731hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg38152
hg19152
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17013372
Samples
Known GenesZNF704
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5402488
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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