A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17848772



Internal ID22032415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:24541203..24541203hg38UCSC Ensembl
chr16:24552524..24552524hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38272
hg19272
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6250186
Supporting Variants
Samples
Known GenesRBBP6
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17848772
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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