A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6241012



Internal ID22045622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48696163..48696163hg38UCSC Ensembl
chr12:49089946..49089946hg19UCSC Ensembl
Cytoband12q13.11
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 Variantsnssv17843889
Samples
Known GenesCCNT1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6241012
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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