A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2791443



Internal ID21236781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:107809482..107809482hg38UCSC Ensembl
chr12:108203259..108203259hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38653
hg19653
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13692345
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2791443
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer