A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6250186



Internal ID22054796
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 StatusM
Merged Variants
Supporting Variantsnssv17848772
Samples
Known GenesRBBP6
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6250186
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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