A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17081733



Internal ID21485982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:47666262..47666262hg38UCSC Ensembl
chr14:48135465..48135465hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5656486
Supporting Variants
SamplesNA12878
Known GenesMDGA2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17081733
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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