A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6247459



Internal ID22052069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:103842256..103842256hg38UCSC Ensembl
chr10:105602014..105602014hg19UCSC Ensembl
Cytoband10q24.33
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17842636
Samples
Known GenesSH3PXD2A
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6247459
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