A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5410181



Internal ID189498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:122807875..122807926hg38UCSC Ensembl
chr8:123820114..123820165hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17018504
Samples
Known GenesZHX2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5410181
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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