A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv496n100



Internal ID22786583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:190983869..191039294hg38UCSC Ensembl
chr1:190952999..191008424hg19UCSC Ensembl
chr1:189219622..189275047hg18UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg3855426
hg1955426
hg1855426
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv999691, nsv1014195
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv496n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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