A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3591970



Internal ID18543565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:12587682..12770129hg38UCSC Ensembl
Innerchr3:12629181..12811628hg19UCSC Ensembl
Innerchr3:12604181..12786628hg18UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg38182448
hg19182448
hg18182448
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1011240
Supporting Variants
Samples
Known GenesRAF1, TMEM40
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3591970
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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