A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5543193



Internal ID199256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:174230993..174230993hg38UCSC Ensembl
chr3:173948783..173948783hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg38663
hg19663
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16942868
Samples
Known GenesNLGN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5543193
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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