A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv554950



Internal ID16342359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:55615681..55679951hg38UCSC Ensembl
Innerchr11:55383157..55447427hg19UCSC Ensembl
Innerchr11:55139733..55204003hg18UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg3864271
hg1964271
hg1864271
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1915n54
Supporting Variantsnssv776642, nssv776639, nssv1175387, nssv776644, nssv1175388, nssv776645, nssv776638, nssv1175385, nssv1175386, nssv776643, nssv776640, nssv776641
SamplesNINDS_197, 1780862081_A, HGDP00976, 1780854159_A
Known GenesOR4C6, OR4P4, OR4S2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv554950
Frequency
Sample Size17421
Observed Gain2
Observed Loss10
Observed Complex0
Frequencyn/a


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