A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5830350



Internal ID22605285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:49029473..49030572hg38UCSC Ensembl
chr1:49495145..49496244hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg381100
hg191100
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17480456, nssv17480457
Samples
Known GenesAGBL4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5830350
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