A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5471488



Internal ID249223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:90270931..90271310hg38UCSC Ensembl
chr5:89566748..89567127hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38380
hg19380
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16971319
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5471488
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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