A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6247598



Internal ID22052208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:118729792..118729792hg38UCSC Ensembl
chr10:120489304..120489304hg19UCSC Ensembl
Cytoband10q26.11
Allele length
AssemblyAllele length
hg38168
hg19168
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17842290
Samples
Known GenesCACUL1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6247598
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