A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5490847



Internal ID268097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:18541536..18621352hg38UCSC Ensembl
chr10:18830465..18910281hg19UCSC Ensembl
Cytoband10p12.31
Allele length
AssemblyAllele length
hg3879817
hg1979817
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17032577
Samples
Known GenesCACNB2, NSUN6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5490847
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