A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv561n100



Internal ID22786648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:202615009..202660031hg38UCSC Ensembl
chr1:202584137..202629159hg19UCSC Ensembl
chr1:200850760..200895782hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3845023
hg1945023
hg1845023
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1002319, nsv1009688
Samples
Known GenesSYT2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv561n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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