A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046593



Internal ID18789124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20364686..22308242hg38UCSC Ensembl
Innerchr15:20569939..22681064hg19UCSC Ensembl
Innerchr15:18829953..20232428hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg381943557
hg192111126
hg181402476
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2179n100
Supporting Variantsnssv3535807, nssv3535806
Samples
Known GenesCT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, MIR4509-1, MIR4509-2, MIR4509-3, NBEAP1, NF1P2, OR4M2, OR4N3P, OR4N4, POTEB, POTEB2, REREP3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046593
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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