A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6248658



Internal ID22053268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121811282..121811282hg38UCSC Ensembl
chr12:122249188..122249188hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17846172
Samples
Known GenesSETD1B
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6248658
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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