A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv589701



Internal ID16377110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:12582571..12764624hg38UCSC Ensembl
Innerchr3:12624070..12806123hg19UCSC Ensembl
Innerchr3:12599070..12781123hg18UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg38182054
hg19182054
hg18182054
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8227n54
Supporting Variantsnssv1151873
SamplesHGDP00706
Known GenesMKRN2, RAF1, TMEM40
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv589701
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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