A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042786



Internal ID18785317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:43166264..43214467hg38UCSC Ensembl
Innerchr13:43740400..43788603hg19UCSC Ensembl
Innerchr13:42638400..42686603hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3848204
hg1948204
hg1848204
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1642n100
Supporting Variantsnssv3714976, nssv3523415
Samples
Known GenesENOX1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1042786
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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