A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv489n54



Internal ID22768384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:108827293..108829252hg38UCSC Ensembl
chr1:109369915..109371874hg19UCSC Ensembl
chr1:109171438..109173397hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg381960
hg191960
hg181960
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547423, nsv547424
Samples
Known GenesAKNAD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv489n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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