A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6241041



Internal ID22045651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:228055218..228055218hg38UCSC Ensembl
chr1:228242919..228242919hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38257
hg19257
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17844280
Samples
Known GenesWNT3A
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6241041
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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