A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5657982



Internal ID21606287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:52223820..52223820hg38UCSC Ensembl
chr14:52690538..52690538hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17081951
SamplesHG03486
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5657982
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