A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520066



Internal ID15447359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:207852021..207853059hg38UCSC Ensembl
Innerchr2:208716745..208717783hg19UCSC Ensembl
Innerchr2:208424990..208426028hg18UCSC Ensembl
Innerchr2:208542251..208543289hg17UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg381039
hg191039
hg181039
hg171039
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv677595, nssv672393, nssv660398
Samples
Known GenesPLEKHM3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520066
Frequency
Sample Size2026
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer