A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002711



Internal ID18745243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:4920733..5083483hg38UCSC Ensembl
Innerchr4:4922460..5085210hg19UCSC Ensembl
Innerchr4:4973361..5136111hg18UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg38162751
hg19162751
hg18162751
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5094n100
Supporting Variantsnssv3616175
Samples
Known GenesCYTL1, STK32B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002711
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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