A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5851122



Internal ID22626057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:47747951..47749950hg38UCSC Ensembl
chr12:48141734..48143733hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg382000
hg192000
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17457047
Samples
Known GenesRAPGEF3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5851122
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