A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5983480



Internal ID21892823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:26196915..26241258hg38UCSC Ensembl
chr1:26523406..26567749hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3844344
hg1944344
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17534290
Samples
Known GenesCATSPER4, CEP85
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5983480
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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