A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517008



Internal ID15444301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:3915413..4198033hg38UCSC Ensembl
Innerchr4:3917140..4199760hg19UCSC Ensembl
Innerchr4:3968061..4250661hg18UCSC Ensembl
Innerchr4:4035232..4317832hg17UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg38282621
hg19282621
hg18282601
hg17282601
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv677344, nssv690412, nssv687622, nssv660978, nssv653604, nssv661794, nssv659839, nssv705183, nssv698260, nssv677878, nssv656521, nssv673095
Samples
Known GenesFAM86EP, OTOP1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517008
Frequency
Sample Size2026
Observed Gain2
Observed Loss10
Observed Complex0
Frequencyn/a


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