A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5563416



Internal ID336350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:117606482..117606533hg38UCSC Ensembl
chr7:117246536..117246587hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17001693
Samples
Known GenesCFTR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5563416
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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