A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048993



Internal ID19138212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:5762153..5791118hg38UCSC Ensembl
Innerchr11:5783383..5812348hg19UCSC Ensembl
Innerchr11:5739959..5768924hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3828966
hg1928966
hg1828966
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1046n100
Supporting Variantsnssv3520572, nssv3505247, nssv3512747
Samples
Known GenesOR52N1, OR52N5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048993
Frequency
Sample Size11257
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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