A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049956



Internal ID19139175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18976182..19906486hg38UCSC Ensembl
Innerchr14:19562127..20374645hg19UCSC Ensembl
Innerchr14:18632127..19444485hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38930305
hg19812519
hg18812359
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1766n100
Supporting Variantsnssv3528204, nssv3528205
Samples
Known GenesBMS1P17, BMS1P18, OR11H2, OR4K2, 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)nsv1049956
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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