A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5980518



Internal ID21889861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:110232107..110251755hg38UCSC Ensembl
chr1:110774729..110794377hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3819649
hg1919649
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17529326
Samples
Known GenesKCNC4
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5980518
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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