A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5518728



Internal ID295098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8126426..8129162hg38UCSC Ensembl
chr19:8191310..8194046hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg382737
hg192737
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17721105
Samples
Known GenesFBN3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5518728
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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