A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv582n100



Internal ID20152198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:231571141..231680718hg38UCSC Ensembl
chr1:231706887..231816464hg19UCSC Ensembl
chr1:229773510..229883087hg18UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38109578
hg19109578
hg18109578
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv998168, nsv1000141, nsv1001706, nsv1010390, nsv1007473, nsv1012528, nsv1014496, nsv1009119, nsv1011187
Samples
Known GenesDISC1, LINC00582, TSNAX-DISC1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv582n100
Frequency
Sample Size29084
Observed Gain29
Observed Loss0
Observed Complex0
Frequencyn/a


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