A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5402504



Internal ID181874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:79115421..79115472hg38UCSC Ensembl
chr5:78411244..78411295hg19UCSC Ensembl
Cytoband5q14.1
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 Variantsnssv16966955
Samples
Known GenesBHMT
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5402504
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