A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv473n100



Internal ID20152089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179814787..179895575hg38UCSC Ensembl
chr1:179783922..179864710hg19UCSC Ensembl
chr1:178050545..178131333hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3880789
hg1980789
hg1880789
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1005051, nsv1005808
Samples
Known GenesFAM163A, TOR1AIP1, TOR1AIP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv473n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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