A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5859068



Internal ID22634003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55832128..55833877hg38UCSC Ensembl
chr12:56225912..56227661hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg381750
hg191750
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17463528
Samples
Known GenesTMEM198B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5859068
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