A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17004045



Internal ID70328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:107753907..107761662hg38UCSC Ensembl
chr7:107394352..107402107hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg387756
hg197756
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5492991
Supporting Variants
Samples
Known GenesCBLL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17004045
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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