A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6241144



Internal ID22045754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:66015376..66015376hg38UCSC Ensembl
chr12:66409156..66409156hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17844069
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6241144
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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