A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv918n54



Internal ID20134342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248586905..248638700hg38UCSC Ensembl
chr1:248750206..248802001hg19UCSC Ensembl
chr1:246816829..246868624hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3851796
hg1951796
hg1851796
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv549709, nsv549688, nsv549690, nsv549717, nsv549701, nsv549714, nsv549691, nsv549689, nsv549693, nsv549700, nsv549692, nsv549687, nsv549710, nsv549713, nsv549686, nsv549702, nsv549703, nsv549708, nsv549716
Samples
Known GenesOR2T10, OR2T11, OR2T35
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv918n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss74
Observed Complex0
Frequencyn/a


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