A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048306



Internal ID18790837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18225635..19954424hg38UCSC Ensembl
Innerchr14:19002112..20422583hg19UCSC Ensembl
Innerchr14:18072112..19492423hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg381728790
hg191420472
hg181420312
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1753n100
Supporting Variantsnssv3526869, nssv3526868, nssv3713357, nssv3526870, nssv3713356
Samples
Known GenesBMS1P17, BMS1P18, LOC642426, OR11H12, 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)nsv1048306
Frequency
Sample Size29084
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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