A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17001696



Internal ID68736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:117612020..117612082hg38UCSC Ensembl
chr7:117252074..117252136hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5486724
Supporting Variants
Samples
Known GenesCFTR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17001696
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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