A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv648n54



Internal ID20134072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179486510..179487989hg38UCSC Ensembl
chr1:179455645..179457124hg19UCSC Ensembl
chr1:177722268..177723747hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg381480
hg191480
hg181480
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv548303, nsv548302, nsv548301, nsv548311
Samples
Known GenesAXDND1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv648n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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