A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5982029



Internal ID21891372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:183403229..183404271hg38UCSC Ensembl
chr1:183372364..183373406hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg381043
hg191043
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17522356
Samples
Known GenesNMNAT2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5982029
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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