A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008666



Internal ID18751197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248574134..248647345hg38UCSC Ensembl
Innerchr1:248737435..248810646hg19UCSC Ensembl
Innerchr1:246804058..246877269hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3873212
hg1973212
hg1873212
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv630n100
Supporting Variantsnssv3484081, nssv3486903, nssv3484752, nssv3708309, nssv3493140, nssv3708304, nssv3499265, nssv3486310, nssv3490066, nssv3498836, nssv3495315, nssv3485933, nssv3500581, nssv3496633, nssv3490812, nssv3708305, nssv3493727, nssv3708308, nssv3488313, nssv3501875, nssv3494951, nssv3488253, nssv3489468, nssv3483195, nssv3706466, nssv3502104, nssv3486425, nssv3500901, nssv3706467, nssv3500895, nssv3708306, nssv3487069, nssv3487887, nssv3485024, nssv3489618, nssv3490263, nssv3488127, nssv3485549, nssv3498531, nssv3491532, nssv3502359, nssv3485282, nssv3494994, nssv3485314, nssv3496241, nssv3499889, nssv3484287, nssv3501946, nssv3497301, nssv3490378, nssv3708310, nssv3501949, nssv3488553, nssv3489983, nssv3708307, nssv3493067
Samples
Known GenesOR2T10, OR2T11, OR2T34, OR2T35
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008666
Frequency
Sample Size29084
Observed Gain1
Observed Loss55
Observed Complex0
Frequencyn/a


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