A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559425



Internal ID16346834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:76925229..76989301hg38UCSC Ensembl
Innerchr12:77319009..77383081hg19UCSC Ensembl
Innerchr12:75843140..75907212hg18UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg3864073
hg1964073
hg1864073
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1175878
SamplesHGDP00098
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559425
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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