A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17701379



Internal ID125045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:55681944..55681995hg38UCSC Ensembl
chr15:55974142..55974193hg19UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5557191
Supporting Variants
Samples
Known GenesPRTG
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17701379
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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