A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5903546



Internal ID22678715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:169583887..169588390hg38UCSC Ensembl
chr5:169010891..169015394hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg384504
hg194504
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17419347
Samples
Known GenesSPDL1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5903546
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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