A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5452948



Internal ID231090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:118039854..118039949hg38UCSC Ensembl
chr2:118797430..118797525hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16918353
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5452948
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