A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv630n100



Internal ID20152246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248574134..248655170hg38UCSC Ensembl
chr1:248737435..248818471hg19UCSC Ensembl
chr1:246804058..246885094hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3881037
hg1981037
hg1881037
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1003709, nsv1005145, nsv1008666, nsv1003216, nsv999299, nsv1000791, nsv1007887, nsv1012045, nsv1014775, nsv1003351, nsv1009114, nsv1010641
Samples
Known GenesOR2T10, OR2T11, OR2T27, OR2T34, OR2T35
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv630n100
Frequency
Sample Size29084
Observed Gain16
Observed Loss834
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer