A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014801



Internal ID18757336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247664654..247999886hg38UCSC Ensembl
Innerchr1:247827956..248163188hg19UCSC Ensembl
Innerchr1:245894579..246229811hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38335233
hg19335233
hg18335233
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv605n100
Supporting Variantsnssv3498270, nssv3488982
Samples
Known GenesOR11L1, OR13G1, OR14A16, OR1C1, OR2AK2, OR2L13, OR2L1P, 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)nsv1014801
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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