A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3497608



Internal ID18738563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247664654..248568732hg38UCSC Ensembl
Innerchr1:247827956..248732033hg19UCSC Ensembl
Innerchr1:245894579..246798656hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38904079
hg19904078
hg18904078
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1014363
Supporting Variants
Samples
Known GenesOR11L1, OR13G1, OR14A16, OR14C36, OR1C1, OR2AK2, OR2G6, OR2L13, OR2L1P, OR2L2, OR2L3, OR2L5, OR2L8, OR2M1P, OR2M2, OR2M3, OR2M4, OR2M5, OR2M7, OR2T1, OR2T12, OR2T2, OR2T29, OR2T3, OR2T33, OR2T4, OR2T5, OR2T6, OR2T8, OR2W3, OR6F1, TRIM58
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3497608
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