A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5980868



Internal ID21890211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:117430369..117430419hg38UCSC Ensembl
chr1:117972991..117973041hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17536142
Samples
Known GenesMAN1A2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5980868
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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