A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6243568



Internal ID22048178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:29235686..29235686hg38UCSC Ensembl
chr3:29277177..29277177hg19UCSC Ensembl
Cytoband3p24.1
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 Variantsnssv17853342
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6243568
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer