A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612547



Internal ID16399956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:139740045..139750704hg38UCSC Ensembl
Innerchr8:140752288..140762947hg19UCSC Ensembl
Innerchr8:140821470..140832129hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3810660
hg1910660
hg1810660
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12361n54
Supporting Variantsnssv1124242
Samples
Known GenesTRAPPC9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612547
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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