A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6045563



Internal ID21954828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:183373951..183373951hg38UCSC Ensembl
chr1:183343086..183343086hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg382373
hg192373
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17518039
Samples
Known GenesNMNAT2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6045563
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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