A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040734



Internal ID19129953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18661498..19955201hg38UCSC Ensembl
Innerchr14:19437975..20423360hg19UCSC Ensembl
Innerchr14:18507975..19493200hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg381293704
hg19985386
hg18985226
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1759n100
Supporting Variantsnssv3528038, nssv3528031, nssv3714207, nssv3528029, nssv3528064, nssv3528068, nssv3714199, nssv3714202, nssv3714208, nssv3528036, nssv3714204, nssv3528035, nssv3528057, nssv3528063, nssv3528059, nssv3528062, nssv3528047, nssv3528050, nssv3528045, nssv3714201, nssv3714198, nssv3528040, nssv3528055, nssv3528052, nssv3714200, nssv3714209, nssv3528061, nssv3528037, nssv3528033, nssv3528067, nssv3528039, nssv3528034, nssv3528054, nssv3528065, nssv3714210, nssv3528048, nssv3528042, nssv3528044, nssv3528066, nssv3528060, nssv3528053, nssv3528049, nssv3528032, nssv3714203, nssv3528069, nssv3714212, nssv3528046, nssv3528043, nssv3528058, nssv3714211, nssv3714206, nssv3528041, nssv3528051, nssv3528030, nssv3528056, nssv3714205
Samples
Known GenesBMS1P17, BMS1P18, OR11H2, OR4K1, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3, POTEG, POTEM
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040734
Frequency
Sample Size11257
Observed Gain56
Observed Loss0
Observed Complex0
Frequencyn/a


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