A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6259223



Internal ID22063833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:13743332..13743332hg38UCSC Ensembl
chr18:13743331..13743331hg19UCSC Ensembl
Cytoband18p11.21
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 Variantsnssv17849693
Samples
Known GenesRNMT
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6259223
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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