A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17062282



Internal ID21491649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:21166095..21166095hg38UCSC Ensembl
chr1:21492588..21492588hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5617796
Supporting Variants
SamplesNA19238
Known GenesEIF4G3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17062282
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