A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571351



Internal ID16012074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:6700249..7065289hg38UCSC Ensembl
Innerchr16:6750250..7115290hg19UCSC Ensembl
Innerchr16:6690251..7055291hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38365041
hg19365041
hg18365041
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4892n54
Supporting Variantsnssv852381, nssv852379, nssv852380
Samples
Known GenesRBFOX1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571351
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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