A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5433794



Internal ID212496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:47686733..47686825hg38UCSC Ensembl
chr1:48152405..48152497hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16902677
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5433794
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