A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv642n100



Internal ID20152258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248645256..248720513hg38UCSC Ensembl
chr1:248808557..248883814hg19UCSC Ensembl
chr1:246875180..246950437hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3875258
hg1975258
hg1875258
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1013014, nsv1010423, nsv1005318, nsv1006604, nsv1013178
Samples
Known GenesOR14I1, OR2T27
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv642n100
Frequency
Sample Size29084
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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