A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448350



Internal ID226628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:183304587..183365000hg38UCSC Ensembl
chr1:183273722..183334135hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3860414
hg1960414
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16893122
Samples
Known GenesNMNAT2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448350
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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