A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5401524



Internal ID180901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:150659919..150659970hg38UCSC Ensembl
chr3:150377706..150377757hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16940551
Samples
Known GenesFAM194A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5401524
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