A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000791



Internal ID18743322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248585881..248650779hg38UCSC Ensembl
Innerchr1:248749182..248814080hg19UCSC Ensembl
Innerchr1:246815805..246880703hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3864899
hg1964899
hg1864899
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv630n100
Supporting Variantsnssv3485666, nssv3486833, nssv3489475, nssv3492249, nssv3490752, nssv3485616, nssv3486030, nssv3484800, nssv3493311, nssv3491285, nssv3495440, nssv3496728, nssv3484497, nssv3485822, nssv3497288, nssv3501733, nssv3487573, nssv3498324, nssv3483459, nssv3497452, nssv3493735, nssv3488932, nssv3500270, nssv3707629, nssv3707630, nssv3497709, nssv3489613, nssv3493228, nssv3496174, nssv3484835, nssv3488742, nssv3707631, nssv3497669, nssv3487753, nssv3707632, nssv3493824, nssv3483594, nssv3490234, nssv3707634, nssv3491537, nssv3485545, nssv3485727, nssv3500540, nssv3484233, nssv3493177, nssv3483944, nssv3707633, nssv3486884
Samples
Known GenesOR2T10, OR2T11, OR2T27, OR2T35
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000791
Frequency
Sample Size29084
Observed Gain1
Observed Loss47
Observed Complex0
Frequencyn/a


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