A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6248457



Internal ID22053067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:94013221..94013221hg38UCSC Ensembl
chr12:94406997..94406997hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17843966
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6248457
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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