A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv611n100



Internal ID20152227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248082754..248275627hg38UCSC Ensembl
chr1:248246056..248438929hg19UCSC Ensembl
chr1:246312679..246505552hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38192874
hg19192874
hg18192874
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1010468, nsv1007322, nsv999950, nsv1011102
Samples
Known GenesOR2L13, OR2M1P, OR2M2, OR2M3, OR2M4, OR2M5, OR2T33
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv611n100
Frequency
Sample Size29084
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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