A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3117762



Internal ID21301028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248547034..248631888hg38UCSC Ensembl
Innerchr1:248710335..248795189hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3884855
hg1984855
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv132n145
Supporting Variantsnssv14109037, nssv14083809, nssv14093696, nssv14093206, nssv14094399, nssv14092344, nssv14096248, nssv14101568, nssv14088268, nssv14108218, nssv14109226, nssv14086439, nssv14084779, nssv14083050, nssv14094084, nssv14095782, nssv14085021, nssv14100142, nssv14086561, nssv14105887, nssv14108062, nssv14082539, nssv14102035, nssv14106034, nssv14097466, nssv14098826, nssv14085267, nssv14094487, nssv14097810, nssv14082818, nssv14104419, nssv14088634, nssv14104519, nssv14082729, nssv14090997, nssv14093984
Samplessample145, sample154, sample303, sample382, sample346, sample182, sample282, sample222, sample93, sample173, sample87, sample314, sample414, sample76, sample263, sample120, sample140, sample176, sample5, sample56, sample372, sample147, sample34, sample331, sample2, sample311, sample210, sample77, sample273, sample234, sample155, sample309, sample321, sample162, sample163, sample398
Known GenesOR2T10, OR2T11, OR2T29, OR2T34
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3117762
Frequency
Sample Size467
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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