A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5989170



Internal ID21898513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:42191715..42228220hg38UCSC Ensembl
chr2:42418855..42455360hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3836506
hg1936506
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17532802
Samples
Known GenesEML4
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5989170
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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