A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv22n27



Internal ID6315069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:89257378..89360520hg19UCSC Ensembl
chr1:89029966..89133108hg18UCSC Ensembl
chr1:88969399..89072541hg17UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnsv462461, nsv462428, nsv462439
SamplesHGDP00995, HGDP01003, HGDP01010
Known GenesGTF2B, PKN2
Method
Analysis
Platform
Comments
ReferenceItsara et al 2009
Pubmed ID19166990
Accession Number(s)dgv22n27
Frequency
Sample Size1557
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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