A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571335



Internal ID16012058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:6587112..6639091hg38UCSC Ensembl
Innerchr16:6637113..6689092hg19UCSC Ensembl
Innerchr16:6577114..6629093hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3851980
hg1951980
hg1851980
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4889n54
Supporting Variantsnssv1148919, nssv1148920
SamplesHGDP00548, HGDP00550
Known GenesRBFOX1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571335
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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