A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17001707



Internal ID68744
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 StatusS
Merged Variantsnsv5487809
Supporting Variants
Samples
Known GenesCFTR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17001707
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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