A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5981277



Internal ID21890620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149391976..149412646hg38UCSC Ensembl
chr1:145210510..145230871hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3820671
hg1920362
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17527418
Samples
Known GenesLOC100288142, NBPF9, NOTCH2NL
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5981277
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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