A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6248411



Internal ID22053021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:88125867..88125867hg38UCSC Ensembl
chr12:88519644..88519644hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17843920
Samples
Known GenesCEP290
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6248411
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