A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514642



Internal ID15813001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:101709491..101711979hg38UCSC Ensembl
Innerchr12:102103269..102105757hg19UCSC Ensembl
Innerchr12:100627400..100629888hg18UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg382489
hg192489
hg182489
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2786299, nssv2784380, nssv2781578, nssv2780678, nssv2784905, nssv2780475, nssv2781998, nssv2780261, nssv2785103, nssv2784398, nssv2788413, nssv2784582, nssv2782893, nssv2782857, nssv2782649, nssv2779758, nssv2786216, nssv2780741, nssv2786971, nssv2780118, nssv2782536, nssv2779631, nssv2783552, nssv2788131, nssv2784531, nssv2779000, nssv2782112, nssv2783128, nssv2779830, nssv2779347, nssv2782419, nssv2788235, nssv2786799, nssv2781121, nssv2782743, nssv2783991, nssv2778838, nssv2786425, nssv2781483, nssv2783028, nssv2788204, nssv2787644, nssv2783575, nssv2781913, nssv2779897, nssv2788432, nssv2778822, nssv2778564, nssv2785879, nssv2784819, nssv2785364, nssv2786350, nssv2788247, nssv2781305, nssv2781848, nssv2783333, nssv2779554, nssv2787228, nssv2780896, nssv2786677, nssv2786868, nssv2782456, nssv2785458, nssv2779874, nssv2783476, nssv2787619, nssv2781599, nssv2779290
SamplesNA21488, NA18621, NA10845, NA18592, NA21399, NA18999, NA12045, NA18633, NA12399, NA18969, NA18967, NA07346, NA18550, NA12891, NA12348, NA18960, NA07048, NA21401, NA11918, NA18582, NA21391, NA11930, NA12282, NA12005, NA07019, NA18966, NA10855, NA21362, NA10839, NA18975, NA12748, NA11993, NA21313, NA12489, NA12753, NA10863, NA12878, NA18956, NA12718, NA18572, NA18537, NA21441, NA11840, NA12264, NA21583, NA12778, NA18945, NA18974, NA19003, NA11881, NA18517, NA12864, NA18564, NA12873, NA07051, NA18992, NA12763, NA07055, NA06986, NA10860, NA18609, NA18552, NA07056, NA11892, NA07034, NA18612, NA11832, NA18997
Known GenesCHPT1
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514642
Frequency
Sample Size2366
Observed Gain0
Observed Loss68
Observed Complex0
Frequencyn/a


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