A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511546



Internal ID15850971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19744476..19956343hg38UCSC Ensembl
Outerchr14:19727722..19956892hg38UCSC Ensembl
Innerchr14:20212635..20424502hg19UCSC Ensembl
Outerchr14:20195881..20425051hg19UCSC Ensembl
Innerchr14:19282475..19494342hg18UCSC Ensembl
Outerchr14:19265721..19494891hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38229171
hg19229171
hg18229171
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626170
Samples1
Known GenesOR4K1, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv511546
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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