A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6248449



Internal ID22053059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:92187918..92187918hg38UCSC Ensembl
chr12:92581694..92581694hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17843958
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6248449
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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