A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5545251



Internal ID319308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:8560956..8560972hg38UCSC Ensembl
chr18:8560954..8560970hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17715256
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5545251
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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