A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5547819



Internal ID321624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:139574427..139574435hg38UCSC Ensembl
chr3:139293269..139293277hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16938808
Samples
Known GenesNMNAT3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5547819
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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