A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013273



Internal ID18755804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247656673..248784560hg38UCSC Ensembl
Innerchr1:247819975..249078759hg19UCSC Ensembl
Innerchr1:245886598..247045382hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381127888
hg191258785
hg181158785
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3497046
Samples
Known GenesLYPD8, OR11L1, OR13G1, OR14A16, OR14C36, OR14I1, OR1C1, OR2AK2, OR2G6, OR2L13, OR2L1P, OR2L2, OR2L3, OR2L5, OR2L8, OR2M1P, OR2M2, OR2M3, OR2M4, OR2M5, OR2M7, OR2T1, OR2T10, OR2T11, OR2T12, OR2T2, OR2T27, OR2T29, OR2T3, OR2T33, OR2T34, OR2T35, 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)nsv1013273
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