A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5452778



Internal ID230921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:166102234..166117788hg38UCSC Ensembl
chr2:166958744..166974298hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3815555
hg1915555
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16921800
Samples
Known GenesSCN1A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5452778
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer