A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv558n100



Internal ID20152174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:197852639..197923673hg38UCSC Ensembl
chr1:197821769..197892803hg19UCSC Ensembl
chr1:196088392..196159426hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3871035
hg1971035
hg1871035
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1004130, nsv999662
Samples
Known GenesC1orf53, LHX9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv558n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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