A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5539078



Internal ID314075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:3016165..3016165hg38UCSC Ensembl
chr18:3016163..3016163hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17715901
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5539078
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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