A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005942



Internal ID18748473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247654777..248067346hg38UCSC Ensembl
Innerchr1:247818079..248230648hg19UCSC Ensembl
Innerchr1:245884702..246297271hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38412570
hg19412570
hg18412570
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv604n100
Supporting Variantsnssv3501918
Samples
Known GenesOR11L1, OR13G1, OR14A16, OR1C1, OR2AK2, OR2L13, OR2L1P, OR2L2, OR2L3, OR2L5, OR2L8, 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)nsv1005942
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