A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571397



Internal ID16012120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:7679219..7772749hg38UCSC Ensembl
Innerchr16:7729221..7822751hg19UCSC Ensembl
Innerchr16:7669222..7762752hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3893531
hg1993531
hg1893531
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv852419
Samples
Known GenesRBFOX1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571397
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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