A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521720



Internal ID15102327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:134505984..134572671hg38UCSC Ensembl
Innerchr5:133841675..133908361hg19UCSC Ensembl
Innerchr5:133869574..133936260hg18UCSC Ensembl
Innerchr5:133869574..133936260hg17UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3866688
hg1966687
hg1866687
hg1766687
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694480
Samples
Known GenesJADE2, LOC101927934
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521720
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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