A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv471n100



Internal ID20152087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179453928..179490541hg38UCSC Ensembl
chr1:179423063..179459676hg19UCSC Ensembl
chr1:177689686..177726299hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3836614
hg1936614
hg1836614
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1011557, nsv1009624
Samples
Known GenesAXDND1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv471n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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