A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17844171



Internal ID22027814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:109492366..109492366hg38UCSC Ensembl
chr12:109930171..109930171hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6248577
Supporting Variants
Samples
Known GenesUBE3B
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17844171
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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