A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5453735



Internal ID231848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:202332536..202341578hg38UCSC Ensembl
chr1:202301664..202310706hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg389043
hg199043
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16895191
Samples
Known GenesUBE2T
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5453735
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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