A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17697890



Internal ID121556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:70376265..70376316hg38UCSC Ensembl
chr14:70842982..70843033hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg38140
hg19140
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5429946
Supporting Variants
Samples
Known GenesSYNJ2BP, SYNJ2BP-COX16
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17697890
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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