A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442655



Internal ID15154688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99401515..99404956hg38UCSC Ensembl
Innerchr12:99795293..99798734hg19UCSC Ensembl
Innerchr12:98319424..98322865hg18UCSC Ensembl
Innerchr12:98297761..98301202hg17UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg383442
hg193442
hg183442
hg173442
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1645388, nssv1645402, nssv1645416, nssv1645417, nssv1645414, nssv1645401, nssv1645415, nssv1645392, nssv1645412, nssv1645405, nssv1645393, nssv1645399, nssv1645383, nssv1645406, nssv1645411, nssv1645408, nssv1645395, nssv1645407, nssv1645404, nssv1645396, nssv1645394, nssv1645382, nssv1645424, nssv1645380, nssv1645418, nssv1645422, nssv1645421, nssv1645390, nssv1645385, nssv1645400, nssv1645386, nssv1645397, nssv1645423, nssv1645425, nssv1645379, nssv1645384, nssv1645381, nssv1645419, nssv1645410, nssv1645398, nssv1645413, nssv1645391, nssv1645409, nssv1645420, nssv1645403, nssv1645389, nssv1645387
SamplesNA18870, NA18863, NA19194, NA18861, NA12750, NA19192, NA18871, NA19222, NA12875, NA19209, NA18501, NA19120, NA18500, NA18859, NA19223, NA18516, NA19210, NA18860, NA12865, NA11882, NA19161, NA18912, NA19211, NA12004, NA10846, NA18856, NA12144, NA18515, NA12892, NA18502, NA19119, NA12872, NA18858, NA19221, NA19131, NA19159, NA19138, NA18872, NA19132, NA07022, NA12878, NA19205, NA10838, NA12248, NA19204, NA19200, NA19202
Known GenesANKS1B
MethodSNP array
AnalysisWe used two computational approaches to identify CNVs: the hidden Markov model Birdseye, and an approach based on correlation between nearby probes across a population sample. To maximize the quality of reported findings, we ran duplicate experiments in independent labs, and report the CNVs that were observed in both experiments, in the same samples and at essentially identical genomic locations.
Platform[GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array
Comments
ReferenceMcCarroll_et_al_2008
Pubmed ID18776908
Accession Number(s)nsv442655
Frequency
Sample Size270
Observed Gain0
Observed Loss47
Observed Complex0
Frequencyn/a


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