A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5988048



Internal ID21897391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237604984..237605816hg38UCSC Ensembl
chr2:238513627..238514459hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38833
hg19833
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17524662
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5988048
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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