A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5508662



Internal ID285348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:65376712..65376890hg38UCSC Ensembl
chr11:65144183..65144361hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg38179
hg19179
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17045210
Samples
Known GenesSLC25A45
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5508662
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