A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5536111



Internal ID239764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:54089810..54089812hg38UCSC Ensembl
chr18:51616180..51616182hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17718307
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5536111
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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