A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516107



Internal ID15443400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7800493..7995503hg38UCSC Ensembl
Innerchr12:7953089..8148099hg19UCSC Ensembl
Innerchr12:7844356..8039366hg18UCSC Ensembl
Innerchr12:7844356..8039366hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38195011
hg19195011
hg18195011
hg17195011
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv683802, nssv661776, nssv682571, nssv691580, nssv682727, nssv662695, nssv684860, nssv661650, nssv684471, nssv652549, nssv667893, nssv693565, nssv661013, nssv674817, nssv686485, nssv657294, nssv678317, nssv678984, nssv690642, nssv653593, nssv690774, nssv672439, nssv692276, nssv687810, nssv677296, nssv678257, nssv658734, nssv681033, nssv678236, nssv672805, nssv659495, nssv680226, nssv702536, nssv685925, nssv657686, nssv682515, nssv682764, nssv651932, nssv668403, nssv691722, nssv676031, nssv695915, nssv653447, nssv681869, nssv652508, nssv685434, nssv680448, nssv686199, nssv682560, nssv703024, nssv660029, nssv653031, nssv691326, nssv665432, nssv685089, nssv662270, nssv676774, nssv653480, nssv681685, nssv689571, nssv654173, nssv653773, nssv680505, nssv673668, nssv653300
Samples
Known GenesSLC2A14, SLC2A3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516107
Frequency
Sample Size2026
Observed Gain56
Observed Loss9
Observed Complex0
Frequencyn/a


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