A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5985812



Internal ID21895155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:114288467..114288753hg38UCSC Ensembl
chr2:115046044..115046330hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38287
hg19287
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17524784
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5985812
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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