A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv922n54



Internal ID22768817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248616640..248629659hg38UCSC Ensembl
chr1:248779941..248792960hg19UCSC Ensembl
chr1:246846564..246859583hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3813020
hg1913020
hg1813020
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv549739, nsv549738
Samples
Known GenesOR2T11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv922n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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