A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6250283



Internal ID22054893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:53465846..53465846hg38UCSC Ensembl
chr16:53499758..53499758hg19UCSC Ensembl
Cytoband16q12.2
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 Variantsnssv17847231
Samples
Known GenesRBL2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6250283
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