A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5982428



Internal ID21891771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:206052520..206058441hg38UCSC Ensembl
chr1:206282930..206288850hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg385922
hg195921
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17521352
Samples
Known GenesC1orf186
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5982428
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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