A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv579n100



Internal ID22786666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:225201788..225283981hg38UCSC Ensembl
chr1:225389490..225471683hg19UCSC Ensembl
chr1:223456113..223538306hg18UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3882194
hg1982194
hg1882194
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv997904, nsv1014968, nsv1005481, nsv1002430
Samples
Known GenesDNAH14
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv579n100
Frequency
Sample Size11257
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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