A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003709



Internal ID18746240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248589903..248647345hg38UCSC Ensembl
Innerchr1:248753204..248810646hg19UCSC Ensembl
Innerchr1:246819827..246877269hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3857443
hg1957443
hg1857443
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv630n100
Supporting Variantsnssv3707652, nssv3498914, nssv3494485, nssv3490938, nssv3489404, nssv3495303, nssv3486847, nssv3490438, nssv3496067, nssv3489652, nssv3484649, nssv3483361, nssv3488116, nssv3489657, nssv3485584, nssv3488728, nssv3495083, nssv3494921, nssv3499290, nssv3707651, nssv3498057, nssv3488433, nssv3486939, nssv3491434, nssv3485050, nssv3501147, nssv3484056, nssv3497084, nssv3502745, nssv3500881, nssv3494549, nssv3497015, nssv3492636, nssv3496221, nssv3492644, nssv3490993, nssv3497892, nssv3492362, nssv3487830, nssv3487817, nssv3493340, nssv3493607, nssv3499410, nssv3487826, nssv3497924, nssv3486185, nssv3484341, nssv3489751, nssv3488634, nssv3488233, nssv3483356, nssv3485594, nssv3501219, nssv3502157, nssv3492423, nssv3502419, nssv3494688, nssv3488599, nssv3483253, nssv3707653
Samples
Known GenesOR2T10, OR2T11, OR2T35
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003709
Frequency
Sample Size29084
Observed Gain1
Observed Loss59
Observed Complex0
Frequencyn/a


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