A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571317



Internal ID16012040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:6094647..6147798hg38UCSC Ensembl
Innerchr16:6144648..6197799hg19UCSC Ensembl
Innerchr16:6084649..6137800hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3853152
hg1953152
hg1853152
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1148912
SamplesHGDP00106
Known GenesRBFOX1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571317
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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