A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5536489



Internal ID246662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:110782277..110782277hg38UCSC Ensembl
chr2:111539854..111539854hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38208
hg19208
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16918738
Samples
Known GenesACOXL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5536489
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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