A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451108



Internal ID229294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:187488358..187583345hg38UCSC Ensembl
chr2:188353085..188448072hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg3894988
hg1994988
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16927570
Samples
Known GenesTFPI
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451108
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