A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv562848



Internal ID16003571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:98142301..98143646hg38UCSC Ensembl
Innerchr13:98794555..98795900hg19UCSC Ensembl
Innerchr13:97592556..97593901hg18UCSC Ensembl
Cytoband13q32.2
Allele length
AssemblyAllele length
hg381346
hg191346
hg181346
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3340n54
Supporting Variantsnssv817750
Samples
Known GenesFARP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv562848
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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