A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv524991



Internal ID15105598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:36156680..36157713hg38UCSC Ensembl
Innerchr5:36156782..36157815hg19UCSC Ensembl
Innerchr5:36192539..36193572hg18UCSC Ensembl
Innerchr5:36192539..36193572hg17UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg381034
hg191034
hg181034
hg171034
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv701020
Samples
Known GenesSKP2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv524991
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