A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3112895



Internal ID21296161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:42627139..42633491hg38UCSC Ensembl
Innerchr12:43020941..43027293hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg386353
hg196353
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv255n145
Supporting Variantsnssv14091602, nssv14091558, nssv14091435, nssv14091605, nssv14091458, nssv14092548, nssv14092754, nssv14091213, nssv14092397, nssv14092909, nssv14092622, nssv14092715, nssv14092442, nssv14092738, nssv14091286, nssv14091303, nssv14091572, nssv14093697, nssv14092928, nssv14091613, nssv14093810, nssv14091242, nssv14091392, nssv14093786, nssv14092613, nssv14092454, nssv14092797, nssv14093694, nssv14091593, nssv14093279, nssv14093272, nssv14091447, nssv14092732, nssv14093708, nssv14091317, nssv14091483, nssv14092809, nssv14091669, nssv14091577, nssv14091533, nssv14090350, nssv14093823, nssv14093943, nssv14091655, nssv14093795, nssv14092533, nssv14091204, nssv14093295, nssv14092758, nssv14090358, nssv14093922, nssv14092852, nssv14092663, nssv14092461, nssv14092499, nssv14091544, nssv14091643, nssv14090389, nssv14092718, nssv14092793, nssv14092432, nssv14093872, nssv14093726, nssv14091685, nssv14093720, nssv14091332, nssv14093768, nssv14092893, nssv14091454, nssv14092843, nssv14091249, nssv14091197, nssv14092411, nssv14093300, nssv14091347, nssv14091473
Samplessample425, sample98, sample70, sample133, sample373, sample83, sample317, sample11, sample266, sample237, sample370, sample365, sample420, sample9, sample142, sample218, sample82, sample42, sample285, sample208, sample202, sample95, sample360, sample143, sample128, sample363, sample129, sample41, sample186, sample76, sample178, sample307, sample216, sample213, sample19, sample108, sample345, sample332, sample244, sample416, sample153, sample81, sample157, sample407, sample424, sample343, sample118, sample339, sample304, sample92, sample79, sample418, sample61, sample233, sample43, sample253, sample175, sample68, sample112, sample245, sample117, sample47, sample331, sample278, sample21, sample391, sample73, sample89, sample250, sample172, sample188, sample36, sample113, sample46, sample162, sample110
Known Genes
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3112895
Frequency
Sample Size467
Observed Gain0
Observed Loss76
Observed Complex0
Frequencyn/a


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