A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17697942



Internal ID121608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:76014106..76014129hg38UCSC Ensembl
chr14:76480449..76480472hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5428088
Supporting Variants
Samples
Known GenesIFT43
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17697942
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.007961


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