A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6243569



Internal ID22048179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:29372882..29372882hg38UCSC Ensembl
chr3:29414373..29414373hg19UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg38261
hg19261
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17853343
Samples
Known GenesRBMS3
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6243569
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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