A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5487809



Internal ID265139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:117660797..117670251hg38UCSC Ensembl
chr7:117300851..117310305hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg389455
hg199455
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17001707
Samples
Known GenesCFTR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5487809
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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