A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv481n100



Internal ID22786568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:186202242..186237056hg38UCSC Ensembl
chr1:186171374..186206188hg19UCSC Ensembl
chr1:184437997..184472811hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3834815
hg1934815
hg1834815
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv998436, nsv1009983, nsv1009057, nsv1002201
Samples
Known GenesMIR548F1, RNU6-72P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv481n100
Frequency
Sample Size11257
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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