A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6251063



Internal ID22055673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:43462116..43462116hg38UCSC Ensembl
chr19:43966268..43966268hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38276
hg19276
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17849896
Samples
Known GenesLYPD3
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6251063
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