A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5411272



Internal ID190582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:91049478..91049529hg38UCSC Ensembl
chr8:92061706..92061757hg19UCSC Ensembl
Cytoband8q21.3
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 Variantsnssv17015056
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5411272
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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