A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17699332



Internal ID122998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:75098318..75098369hg38UCSC Ensembl
chr14:75565021..75565072hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5426899
Supporting Variants
Samples
Known GenesNEK9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17699332
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000937


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