A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5457427



Internal ID235470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:57212279..57212336hg38UCSC Ensembl
chr6:57077077..57077134hg19UCSC Ensembl
Cytoband6p11.2
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16983384
Samples
Known GenesRAB23
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5457427
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