A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047313



Internal ID19136532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18639702..19952068hg38UCSC Ensembl
Innerchr14:19416179..20420227hg19UCSC Ensembl
Innerchr14:18486179..19490067hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg381312367
hg191004049
hg181003889
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1759n100
Supporting Variantsnssv3527095, nssv3527098, nssv3527093, nssv3527091, nssv3527092, nssv3527096, nssv3527094, nssv3527097, nssv3713423, nssv3527100, nssv3527099
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)nsv1047313
Frequency
Sample Size11257
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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