A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571348



Internal ID16012071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:6699611..6747061hg38UCSC Ensembl
Innerchr16:6749612..6797062hg19UCSC Ensembl
Innerchr16:6689613..6737063hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3847451
hg1947451
hg1847451
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv852376
Samples
Known GenesRBFOX1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571348
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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