A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5644722



Internal ID21593027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:54061627..54061627hg38UCSC Ensembl
chr14:54528345..54528345hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17086669
SamplesHG03683
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5644722
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