A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5982101



Internal ID21891444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:183389804..183389856hg38UCSC Ensembl
chr1:183358939..183358991hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17525819
Samples
Known GenesNMNAT2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5982101
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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