A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561555



Internal ID16348964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:42786462..42884423hg38UCSC Ensembl
Innerchr13:43360598..43458559hg19UCSC Ensembl
Innerchr13:42258598..42356559hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3897962
hg1997962
hg1897962
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1175928
SamplesHGDP01374
Known GenesFAM216B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv561555
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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