A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5552573



Internal ID325909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:47932853..47932853hg38UCSC Ensembl
chr18:45459224..45459224hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38152
hg19152
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17717996
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5552573
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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