A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5830368



Internal ID22605303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:53901983..53904082hg38UCSC Ensembl
chr1:54367656..54369755hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg382100
hg192100
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17480101
Samples
Known GenesDIO1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5830368
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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