A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5397659



Internal ID177063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:66315047..66315098hg38UCSC Ensembl
chr5:65610875..65610926hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg38248
hg19248
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16966101
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5397659
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer