A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5608433



Internal ID21556738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:113236286..113236286hg38UCSC Ensembl
chr3:112955133..112955133hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17131485
SamplesNA19983
Known GenesBOC
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5608433
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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