A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5583385



Internal ID21531909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:126165020..126166118hg38UCSC Ensembl
chr5:125500713..125501811hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg381099
hg191099
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17120413
SamplesHG03486
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5583385
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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