A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17843787



Internal ID22027430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:27050248..27050248hg38UCSC Ensembl
chr11:27071795..27071795hg19UCSC Ensembl
Cytoband11p14.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6247904
Supporting Variants
Samples
Known GenesBBOX1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17843787
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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