A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571463



Internal ID16012186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:12273934..12689678hg38UCSC Ensembl
Innerchr16:12367791..12783535hg19UCSC Ensembl
Innerchr16:12275292..12691036hg18UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg38415745
hg19415745
hg18415745
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv852536
Samples
Known GenesCPPED1, SNX29
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571463
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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