A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5546399



Internal ID320354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:122726893..122726893hg38UCSC Ensembl
chr3:122445740..122445740hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16939515
Samples
Known GenesPARP14
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5546399
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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