A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv655n54



Internal ID20134079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179638247..179638801hg38UCSC Ensembl
chr1:179607382..179607936hg19UCSC Ensembl
chr1:177874005..177874559hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38555
hg19555
hg18555
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv548337, nsv548336, nsv548335
Samples
Known GenesTDRD5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv655n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss298
Observed Complex0
Frequencyn/a


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