A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049967



Internal ID19139186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18976182..19954424hg38UCSC Ensembl
Innerchr14:19562127..20422583hg19UCSC Ensembl
Innerchr14:18632127..19492423hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38978243
hg19860457
hg18860297
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1766n100
Supporting Variantsnssv3714291, nssv3528246, nssv3528247, nssv3528250, nssv3528239, nssv3528253, nssv3714295, nssv3528260, nssv3714298, nssv3528261, nssv3528256, nssv3714294, nssv3528251, nssv3528258, nssv3714293, nssv3714288, nssv3714297, nssv3528254, nssv3714289, nssv3528249, nssv3714296, nssv3528263, nssv3528262, nssv3714292, nssv3528244, nssv3528240, nssv3528259, nssv3528255, nssv3528257, nssv3528248, nssv3528245, nssv3528243, nssv3714290, nssv3528242, nssv3528241, nssv3528252, nssv3528264, nssv3528238
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)nsv1049967
Frequency
Sample Size11257
Observed Gain38
Observed Loss0
Observed Complex0
Frequencyn/a


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