A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5879166



Internal ID22654134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:154233510..154233935hg38UCSC Ensembl
chr1:154205986..154206411hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38426
hg19426
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17369438
Samples
Known GenesUBAP2L
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5879166
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