A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5831066



Internal ID22606001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:105045618..105049097hg38UCSC Ensembl
chr2:105662076..105665555hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg383480
hg193480
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17484908
Samples
Known GenesMRPS9
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5831066
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