A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv559n100



Internal ID20152175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:200534178..200613666hg38UCSC Ensembl
chr1:200503306..200582794hg19UCSC Ensembl
chr1:198769929..198849417hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3879489
hg1979489
hg1879489
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1001769, nsv1010952
Samples
Known GenesKIF14
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv559n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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