A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041743



Internal ID19130962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18661498..19952068hg38UCSC Ensembl
Innerchr14:19437975..20420227hg19UCSC Ensembl
Innerchr14:18507975..19490067hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg381290571
hg19982253
hg18982093
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1759n100
Supporting Variantsnssv3528012, nssv3528010, nssv3714193, nssv3528014, nssv3528013, nssv3714195, nssv3528011, nssv3714194
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)nsv1041743
Frequency
Sample Size11257
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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