A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571345



Internal ID16012068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:6678602..6852147hg38UCSC Ensembl
Innerchr16:6728603..6902148hg19UCSC Ensembl
Innerchr16:6668604..6842149hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38173546
hg19173546
hg18173546
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1148923
SamplesHGDP00771
Known GenesRBFOX1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571345
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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