A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5406313



Internal ID185653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:123251498..123251549hg38UCSC Ensembl
chr8:124263738..124263789hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17018528
Samples
Known GenesZHX1, ZHX1-C8ORF76
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5406313
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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