A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5987830



Internal ID21897173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:228619803..228619927hg38UCSC Ensembl
chr2:229484519..229484643hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17532757
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5987830
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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