A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2228n100



Internal ID22788315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:20267586..20779072hg38UCSC Ensembl
chr15:20472839..20984401hg19UCSC Ensembl
chr15:18732853..19244450hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38511487
hg19511563
hg18511598
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1044629, nsv1051468, nsv1035670, nsv1043873, nsv1046250, nsv1040817, nsv1035440, nsv1054244, nsv1039041, nsv1041571, nsv1049972, nsv1044892, nsv1035819, nsv1036233, nsv1044099, nsv1049207, nsv1049215, nsv1047334, nsv1035285, nsv1044667, nsv1042885, nsv1051562, nsv1042383, nsv1039641, nsv1044549, nsv1052463, nsv1035260, nsv1044552
Samples
Known GenesCHEK2P2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, NBEAP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv2228n100
Frequency
Sample Size11257
Observed Gain31
Observed Loss0
Observed Complex0
Frequencyn/a


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