A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5956712



Internal ID22731884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:25264132..25264132hg38UCSC Ensembl
chr2:25487001..25487001hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38168
hg19168
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17389851
Samples
Known GenesDNMT3A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5956712
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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