A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5454667



Internal ID232764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:46398777..46400552hg38UCSC Ensembl
chr6:46366514..46368289hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg381776
hg191776
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16983212
Samples
Known GenesRCAN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5454667
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