A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv647n54



Internal ID20134071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179483560..179488301hg38UCSC Ensembl
chr1:179452695..179457436hg19UCSC Ensembl
chr1:177719318..177724059hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg384742
hg194742
hg184742
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv548299, nsv548300
Samples
Known GenesAXDND1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv647n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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