A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040993



Internal ID18783524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:100998647..101501318hg38UCSC Ensembl
Innerchr14:101464984..101967655hg19UCSC Ensembl
Innerchr14:100534737..101037408hg18UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg38502672
hg19502672
hg18502672
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3533550
Samples
Known GenesMEG9, MIR1185-1, MIR1185-2, MIR1193, MIR1197, MIR134, MIR154, MIR299, MIR300, MIR323A, MIR323B, MIR329-1, MIR329-2, MIR369, MIR376A1, MIR376A2, MIR376B, MIR376C, MIR377, MIR379, MIR380, MIR381, MIR381HG, MIR382, MIR409, MIR410, MIR411, MIR412, MIR485, MIR487A, MIR487B, MIR494, MIR495, MIR496, MIR539, MIR541, MIR543, MIR654, MIR655, MIR656, MIR668, MIR758, MIR889
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040993
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