A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5556344



Internal ID329483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:117271553..117271604hg38UCSC Ensembl
chr8:118283792..118283843hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg381217
hg191217
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17015260
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5556344
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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