A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010461



Internal ID18752992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247664654..248102145hg38UCSC Ensembl
Innerchr1:247827956..248265447hg19UCSC Ensembl
Innerchr1:245894579..246332070hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38437492
hg19437492
hg18437492
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv604n100
Supporting Variantsnssv3484909, nssv3492584, nssv3484114
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)nsv1010461
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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