A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1148918



Internal ID15527855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:6587112..6633074hg38UCSC Ensembl
Innerchr16:6637113..6683075hg19UCSC Ensembl
Innerchr16:6577114..6623076hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3845963
hg1945963
hg1845963
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv571334
Supporting Variants
SamplesHGDP00552
Known GenesRBFOX1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1148918
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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