A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5430487



Internal ID209295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:75091064..75091115hg38UCSC Ensembl
chr18:72803020..72803071hg19UCSC Ensembl
Cytoband18q22.3
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 Variantsnssv17719526
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5430487
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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