A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv502n100



Internal ID22786589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:195851207..195907849hg38UCSC Ensembl
chr1:195820337..195876979hg19UCSC Ensembl
chr1:194086960..194143602hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3856643
hg1956643
hg1856643
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1004106, nsv1004411, nsv1007929, nsv999005, nsv1005644, nsv1010327, nsv1006423, nsv1009478
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)dgv502n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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