A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv235n100



Internal ID22786322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:104914884..104957888hg38UCSC Ensembl
chr1:105457506..105500510hg19UCSC Ensembl
chr1:105259029..105302033hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3843005
hg1943005
hg1843005
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1012043, nsv1009380
Samples
Known GenesMIR548H3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv235n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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