A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046250



Internal ID19135469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20267586..20670977hg38UCSC Ensembl
Innerchr15:20472839..20876306hg19UCSC Ensembl
Innerchr15:18732853..19136320hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38403392
hg19403468
hg18403468
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2228n100
Supporting Variantsnssv3713682
Samples
Known GenesCHEK2P2, GOLGA6L6, GOLGA8CP, HERC2P3, NBEAP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046250
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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