A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17847376



Internal ID22031019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:7431677..7431677hg38UCSC Ensembl
chr16:7481678..7481678hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6250063
Supporting Variants
Samples
Known GenesRBFOX1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17847376
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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