A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5667469



Internal ID21615774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45988433..45988433hg38UCSC Ensembl
chr21:47408347..47408347hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38521
hg19521
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17138043
SamplesNA12329
Known GenesCOL6A1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5667469
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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