A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5400196



Internal ID179579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:75416554..75416605hg38UCSC Ensembl
chr8:76328789..76328840hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg38242
hg19242
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17013136
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5400196
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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