A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5981391



Internal ID21890734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:154713961..154714101hg38UCSC Ensembl
chr1:154686437..154686577hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38141
hg19141
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17520602
Samples
Known GenesKCNN3
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5981391
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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