A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040031



Internal ID19129250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18639702..19842764hg38UCSC Ensembl
Innerchr14:19416179..20310923hg19UCSC Ensembl
Innerchr14:18486179..19380763hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg381203063
hg19894745
hg18894585
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1759n100
Supporting Variantsnssv3527073, nssv3527072
Samples
Known GenesBMS1P17, BMS1P18, OR11H2, 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)nsv1040031
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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