A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3117941



Internal ID21301207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18490134..19954068hg38UCSC Ensembl
Innerchr14:19266611..20422227hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg381463935
hg191155617
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv311n145
Supporting Variantsnssv14095445
Samplessample170
Known GenesBMS1P17, BMS1P18, LOC642426, OR11H12, OR11H2, OR4K1, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3, POTEG, POTEM
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3117941
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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