A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17845709



Internal ID22029352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:79858164..79858164hg38UCSC Ensembl
chr14:80324507..80324507hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg38216
hg19216
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6241579
Supporting Variants
Samples
Known GenesNRXN3
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17845709
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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