A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5550843



Internal ID324349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:227959234..227959234hg38UCSC Ensembl
chr1:228146935..228146935hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38115
hg19115
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16897477
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5550843
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