A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5548169



Internal ID321950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:14889689..14889689hg38UCSC Ensembl
chr18:14889688..14889688hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17716496
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5548169
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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