A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17845792



Internal ID22029435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:26447805..26447805hg38UCSC Ensembl
chr14:26917011..26917011hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6249696
Supporting Variants
Samples
Known GenesNOVA1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17845792
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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