A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5987415



Internal ID21896758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:207583277..207583555hg38UCSC Ensembl
chr2:208448001..208448279hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17522091
Samples
Known GenesCREB1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5987415
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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