A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003091



Internal ID18745623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248475313..248704044hg38UCSC Ensembl
Innerchr1:248638614..248867345hg19UCSC Ensembl
Innerchr1:246705237..246933968hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38228732
hg19228732
hg18228732
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3488078
Samples
Known GenesOR14I1, OR2G6, OR2T10, OR2T11, OR2T27, OR2T29, OR2T34, OR2T35, OR2T5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003091
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