A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046296



Internal ID18788827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:99640025..99723163hg38UCSC Ensembl
Innerchr14:100106362..100189500hg19UCSC Ensembl
Innerchr14:99176115..99259253hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3883139
hg1983139
hg1883139
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3532708
Samples
Known GenesCYP46A1, HHIPL1, MIR5698
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046296
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