A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5879101



Internal ID22654069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:245774742..246362458hg38UCSC Ensembl
chr1:245938044..246525760hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38587717
hg19587717
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17367317
Samples
Known GenesSMYD3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5879101
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