A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5554109



Internal ID327304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:48409509..48409559hg38UCSC Ensembl
chr15:48701706..48701756hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg38388
hg19388
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17702995
Samples
Known GenesFBN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5554109
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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