A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522237



Internal ID15449530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:83087109..83258327hg38UCSC Ensembl
Innerchr4:84008262..84179480hg19UCSC Ensembl
Innerchr4:84227286..84398504hg18UCSC Ensembl
Innerchr4:84365441..84536659hg17UCSC Ensembl
Cytoband4q21.22
Allele length
AssemblyAllele length
hg38171219
hg19171219
hg18171219
hg17171219
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695017
Samples
Known GenesPLAC8
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522237
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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