A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv807n54



Internal ID22768702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212824043..212838470hg38UCSC Ensembl
chr1:212997385..213011812hg19UCSC Ensembl
chr1:211064008..211078435hg18UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg3814428
hg1914428
hg1814428
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv549150, nsv549149
Samples
Known GenesC1orf227
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv807n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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