A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5409610



Internal ID188930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:125896659..125896710hg38UCSC Ensembl
chr8:126908903..126908954hg19UCSC 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 Variantsnssv17016358
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5409610
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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