A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053406



Internal ID19142625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18559262..19955201hg38UCSC Ensembl
Innerchr14:19335739..20423360hg19UCSC Ensembl
Innerchr14:18405739..19493200hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg381395940
hg191087622
hg181087462
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1759n100
Supporting Variantsnssv3526965, nssv3526958, nssv3526966, nssv3526963, nssv3713389, nssv3526960, nssv3526964, nssv3713387, nssv3526967, nssv3526968, nssv3526959, nssv3713388, nssv3526957, nssv3526962, nssv3526961, nssv3526969
Samples
Known GenesBMS1P17, BMS1P18, LOC642426, OR11H12, 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)nsv1053406
Frequency
Sample Size11257
Observed Gain16
Observed Loss0
Observed Complex0
Frequencyn/a


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