A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6248909



Internal ID22053519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:36312852..36312852hg38UCSC Ensembl
chr13:36886989..36886989hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17845185
Samples
Known GenesSPG20
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6248909
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