A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5545942



Internal ID319942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:3772124..3772130hg38UCSC Ensembl
chr18:3772124..3772130hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17715952
Samples
Known GenesDLGAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5545942
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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