A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6248447



Internal ID22053057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:92070958..92070958hg38UCSC Ensembl
chr12:92464734..92464734hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg38138
hg19138
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17843956
Samples
Known GenesC12orf79
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6248447
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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