A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv112n54



Internal ID20133536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12182702..12186118hg38UCSC Ensembl
chr1:12242759..12246175hg19UCSC Ensembl
chr1:12165346..12168762hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg383417
hg193417
hg183417
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv545439, nsv545438
Samples
Known GenesTNFRSF1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv112n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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