A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5407844



Internal ID187174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:83368532..83368583hg38UCSC Ensembl
chr5:82664351..82664402hg19UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16967090
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5407844
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