A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6244856



Internal ID22049466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:132911372..132911372hg38UCSC Ensembl
chr5:132247064..132247064hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38249
hg19249
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17858278
Samples
Known GenesAFF4
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6244856
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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