A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1148921



Internal ID15528575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:6598151..6639091hg38UCSC Ensembl
Innerchr16:6648152..6689092hg19UCSC Ensembl
Innerchr16:6588153..6629093hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3840941
hg1940941
hg1840941
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv571338
Supporting Variants
SamplesHGDP00658
Known GenesRBFOX1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1148921
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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