A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv360n54



Internal ID22768255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:88791695..88894837hg38UCSC Ensembl
chr1:89257378..89360520hg19UCSC Ensembl
chr1:89029966..89133108hg18UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg38103143
hg19103143
hg18103143
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546783, nsv546780, nsv546779, nsv546782
SamplesHGDP01005, HGDP00995, HGDP01010, HGDP01008, HGDP01003, HGDP00996
Known GenesGTF2B, PKN2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv360n54
Frequency
Sample Size17421
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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