A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv617n100



Internal ID20152233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248457862..248605673hg38UCSC Ensembl
chr1:248621163..248768974hg19UCSC Ensembl
chr1:246687786..246835597hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38147812
hg19147812
hg18147812
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1007877, nsv1005161, nsv1005778, nsv1002506, nsv1002022, nsv998636, nsv1012700, nsv1003950
Samples
Known GenesOR2G6, OR2T10, OR2T29, OR2T3, OR2T34, OR2T5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv617n100
Frequency
Sample Size29084
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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