A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5409767



Internal ID189087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:123266563..123266614hg38UCSC Ensembl
chr8:124278803..124278854hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38243
hg19243
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17018529
Samples
Known GenesZHX1, ZHX1-C8ORF76
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5409767
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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