A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044819



Internal ID19134038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19230949..19955201hg38UCSC Ensembl
Innerchr14:19790343..20423360hg19UCSC Ensembl
Innerchr14:18860343..19493200hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38724253
hg19633018
hg18632858
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1768n100
Supporting Variantsnssv3527260, nssv3711088, nssv3527224, nssv3527237, nssv3527243, nssv3527259, nssv3527207, nssv3527257, nssv3711099, nssv3527245, nssv3527235, nssv3711116, nssv3527239, nssv3527228, nssv3711111, nssv3527218, nssv3527251, nssv3711110, nssv3527253, nssv3527262, nssv3527212, nssv3711105, nssv3527225, nssv3527249, nssv3527234, nssv3711090, nssv3527238, nssv3527205, nssv3527256, nssv3711102, nssv3527209, nssv3527236, nssv3527248, nssv3711098, nssv3711094, nssv3711089, nssv3527226, nssv3527230, nssv3711112, nssv3527231, nssv3711114, nssv3527241, nssv3711118, nssv3527227, nssv3527219, nssv3711091, nssv3711117, nssv3527261, nssv3527214, nssv3711104, nssv3527240, nssv3711107, nssv3527250, nssv3527215, nssv3527264, nssv3527263, nssv3527233, nssv3527247, nssv3527223, nssv3711097, nssv3527211, nssv3527220, nssv3527222, nssv3527204, nssv3527244, nssv3711100, nssv3527252, nssv3527246, nssv3711092, nssv3527242, nssv3527206, nssv3527255, nssv3711095, nssv3711113, nssv3711108, nssv3527258, nssv3711109, nssv3527221, nssv3527208, nssv3527210, nssv3527213, nssv3711101, nssv3527229, nssv3527216, nssv3711106, nssv3527232, nssv3711115, nssv3527217, nssv3527254, nssv3711103, nssv3711096, nssv3711093
Samples
Known GenesBMS1P17, BMS1P18, OR11H2, OR4K1, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3, POTEM
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1044819
Frequency
Sample Size11257
Observed Gain92
Observed Loss0
Observed Complex0
Frequencyn/a


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