A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1037249



Internal ID19126468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19637241..19924615hg38UCSC Ensembl
Innerchr14:20105479..20392774hg19UCSC Ensembl
Innerchr14:19175240..19462614hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38287375
hg19287296
hg18287375
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1775n100
Supporting Variantsnssv3711188, nssv3527463
Samples
Known GenesOR11H2, 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)nsv1037249
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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