A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5561430



Internal ID334411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:197108737..197108788hg38UCSC Ensembl
chr3:196835608..196835659hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg381237
hg191237
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16946044
Samples
Known GenesDLG1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5561430
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