A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv566n100



Internal ID22786653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:208262669..208284977hg38UCSC Ensembl
chr1:208436014..208458322hg19UCSC Ensembl
chr1:206502637..206524945hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3822309
hg1922309
hg1822309
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1010984, nsv999026, nsv1003097, nsv1001251, nsv1006892
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)dgv566n100
Frequency
Sample Size11257
Observed Gain20
Observed Loss0
Observed Complex0
Frequencyn/a


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