A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054350



Internal ID19143569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19230949..19784261hg38UCSC Ensembl
Innerchr14:19802529..20252420hg19UCSC Ensembl
Innerchr14:18872529..19322260hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38553313
hg19449892
hg18449732
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1767n100
Supporting Variantsnssv3527297
Samples
Known GenesBMS1P17, BMS1P18, OR11H2, OR4M1, 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)nsv1054350
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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