A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5553072



Internal ID326356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:111457638..111457675hg38UCSC Ensembl
chr8:112469867..112469904hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg38284
hg19284
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17016793
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5553072
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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