A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5406831



Internal ID186168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:95665451..95665502hg38UCSC Ensembl
chr3:95384295..95384346hg19UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16936758
Samples
Known GenesMTHFD2P1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5406831
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