A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5853685



Internal ID22628620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:125198571..125201783hg38UCSC Ensembl
chr9:127960850..127964062hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg383213
hg193213
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17511359, nssv17511360
Samples
Known GenesRABEPK
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5853685
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