A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2209n100



Internal ID22788296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:20190264..20793234hg38UCSC Ensembl
chr15:20395517..20998563hg19UCSC Ensembl
chr15:18655531..19258613hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38602971
hg19603047
hg18603083
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1035802, nsv1036559, nsv1054656, nsv1049317
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)dgv2209n100
Frequency
Sample Size11257
Observed Gain4
Observed Loss4
Observed Complex0
Frequencyn/a


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