A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5610505



Internal ID21558810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:134538531..134538531hg38UCSC Ensembl
chr3:134257373..134257373hg19UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17138306
SamplesNA18534
Known GenesCEP63
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5610505
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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