A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv645n54



Internal ID20134069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179360764..179365799hg38UCSC Ensembl
chr1:179329899..179334934hg19UCSC Ensembl
chr1:177596522..177601557hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg385036
hg195036
hg185036
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv548294, nsv548284, nsv548296, nsv548285, nsv548289, nsv548292
Samples
Known GenesAXDND1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv645n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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