A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv638n100



Internal ID20152254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248585881..248703931hg38UCSC Ensembl
chr1:248749182..248867232hg19UCSC Ensembl
chr1:246815805..246933855hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38118051
hg19118051
hg18118051
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1010139, nsv998782, nsv1011797
Samples
Known GenesOR14I1, OR2T10, OR2T11, OR2T27, OR2T35
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv638n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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