A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv589705



Internal ID16377114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:12594207..12776123hg38UCSC Ensembl
Innerchr3:12635706..12817622hg19UCSC Ensembl
Innerchr3:12610706..12792622hg18UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg38181917
hg19181917
hg18181917
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8227n54
Supporting Variantsnssv1151875
SamplesHGDP01018
Known GenesRAF1, TMEM40
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv589705
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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