A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5672347



Internal ID21620652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42300372..42300372hg38UCSC Ensembl
chr21:43720482..43720482hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17119159
SamplesHG03065
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5672347
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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