A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014712



Internal ID19103929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:229854253..230037510hg38UCSC Ensembl
Innerchr2:230718969..230902226hg19UCSC Ensembl
Innerchr2:230427213..230610470hg18UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38183258
hg19183258
hg18183258
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4179n100
Supporting Variantsnssv3586858
Samples
Known GenesFBXO36, SLC16A14, TRIP12
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1014712
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