A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047618



Internal ID19136837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19019295..19955201hg38UCSC Ensembl
Innerchr14:19606995..20423360hg19UCSC Ensembl
Innerchr14:18676995..19493200hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38935907
hg19816366
hg18816206
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1766n100
Supporting Variantsnssv3529665, nssv3529666, nssv3529667, nssv3529662, nssv3529664, nssv3529670, nssv3529672, nssv3529671, nssv3529668, nssv3529674, nssv3529673, nssv3529663, nssv3529669, nssv3529675, nssv3711046, nssv3711045
Samples
Known GenesBMS1P17, BMS1P18, OR11H2, OR4K1, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3, POTEM
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047618
Frequency
Sample Size11257
Observed Gain16
Observed Loss0
Observed Complex0
Frequencyn/a


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