A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5984565



Internal ID21893908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42804870..42816650hg38UCSC Ensembl
chr1:43270541..43282321hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3811781
hg1911781
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17528703
Samples
Known GenesCCDC23
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5984565
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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