A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv252n100



Internal ID20151868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:109338181..109400352hg38UCSC Ensembl
chr1:109880803..109942974hg19UCSC Ensembl
chr1:109682326..109744497hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3862172
hg1962172
hg1862172
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1010997, nsv1002485, nsv1004522, nsv1009201
Samples
Known GenesPSMA5, SORT1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv252n100
Frequency
Sample Size29084
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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