A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv482n100



Internal ID22786569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:186220873..186257370hg38UCSC Ensembl
chr1:186190005..186226502hg19UCSC Ensembl
chr1:184456628..184493125hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3836498
hg1936498
hg1836498
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1002107, nsv998012
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)dgv482n100
Frequency
Sample Size11257
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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