A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5999748



Internal ID21909091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:45227777..45227973hg38UCSC Ensembl
chr5:45227879..45228075hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38197
hg19197
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17540183
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5999748
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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