A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv480n100



Internal ID22786567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:186198801..186257370hg38UCSC Ensembl
chr1:186167933..186226502hg19UCSC Ensembl
chr1:184434556..184493125hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3858570
hg1958570
hg1858570
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1012840, nsv1010055, nsv1009827, nsv1008469, nsv1014789
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)dgv480n100
Frequency
Sample Size11257
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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