A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012975



Internal ID18755506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:24459215..24574153hg38UCSC Ensembl
Innerchr3:24500706..24615644hg19UCSC Ensembl
Innerchr3:24475710..24590648hg18UCSC Ensembl
Cytoband3p24.2
Allele length
AssemblyAllele length
hg38114939
hg19114939
hg18114939
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3589499
Samples
Known GenesMIR4792, THRB, THRB-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012975
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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