A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6251078



Internal ID22055688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:45839243..45839243hg38UCSC Ensembl
chr19:46342501..46342501hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17849912
Samples
Known GenesSYMPK
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6251078
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