A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5670320



Internal ID21618627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:40661593..40661593hg38UCSC Ensembl
chr21:42033519..42033519hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg38232
hg19232
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17118953
SamplesHG00171
Known GenesDSCAM
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5670320
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