A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5982712



Internal ID21892055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220079266..220097402hg38UCSC Ensembl
chr1:220252608..220270744hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3818137
hg1918137
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17529186
Samples
Known GenesBPNT1, IARS2, RNU5F-1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5982712
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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