A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv589706



Internal ID16377115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:12594756..12764411hg38UCSC Ensembl
Innerchr3:12636255..12805910hg19UCSC Ensembl
Innerchr3:12611255..12780910hg18UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg38169656
hg19169656
hg18169656
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8227n54
Supporting Variantsnssv959122, nssv959123
Samples
Known GenesRAF1, TMEM40
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv589706
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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