A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010468



Internal ID18752999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248082754..248275627hg38UCSC Ensembl
Innerchr1:248246056..248438929hg19UCSC Ensembl
Innerchr1:246312679..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 Variantsdgv611n100
Supporting Variantsnssv3490169
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)nsv1010468
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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