A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv198n100



Internal ID22786285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:76311638..76434290hg38UCSC Ensembl
chr1:76777323..76899975hg19UCSC Ensembl
chr1:76549911..76672563hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38122653
hg19122653
hg18122653
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1006776, nsv1014231
Samples
Known GenesST6GALNAC3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv198n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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