A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1045848



Internal ID19135067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19732946..19945687hg38UCSC Ensembl
Innerchr14:20201105..20413846hg19UCSC Ensembl
Innerchr14:19270945..19483686hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38212742
hg19212742
hg18212742
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1778n100
Supporting Variantsnssv3712089
Samples
Known GenesOR4K1, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1045848
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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