A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6241133



Internal ID22045743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:64893689..64893689hg38UCSC Ensembl
chr12:65287469..65287469hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17844367
Samples
Known GenesFLJ41278
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6241133
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