A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442664



Internal ID15154697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:24935708..24941205hg38UCSC Ensembl
Innerchr13:25509846..25515343hg19UCSC Ensembl
Innerchr13:24407846..24413343hg18UCSC Ensembl
Innerchr13:24407846..24413343hg17UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg385498
hg195498
hg185498
hg175498
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1645701, nssv1645688, nssv1645710, nssv1645687, nssv1645700, nssv1645712, nssv1645733, nssv1645728, nssv1645696, nssv1645699, nssv1645690, nssv1645709, nssv1645703, nssv1645738, nssv1645737, nssv1645729, nssv1645695, nssv1645717, nssv1645693, nssv1645714, nssv1645702, nssv1645726, nssv1645697, nssv1645684, nssv1645698, nssv1645730, nssv1645682, nssv1645715, nssv1645736, nssv1645720, nssv1645694, nssv1645734, nssv1645724, nssv1645732, nssv1645731, nssv1645704, nssv1645723, nssv1645739, nssv1645735, nssv1645706, nssv1645740, nssv1645689, nssv1645716, nssv1645686, nssv1645692, nssv1645722, nssv1645741, nssv1645708, nssv1645725, nssv1645742, nssv1645727, nssv1645683, nssv1645711, nssv1645713, nssv1645681, nssv1645705, nssv1645707, nssv1645718, nssv1645719, nssv1645691, nssv1645721, nssv1645685
SamplesNA11881, NA19207, NA19127, NA19152, NA18861, NA18594, NA18951, NA19192, NA18914, NA18561, NA18612, NA19209, NA18526, NA18570, NA18859, NA19223, NA18545, NA18516, NA19203, NA18529, NA18953, NA18969, NA19144, NA19210, NA18507, NA18506, NA18862, NA18912, NA19211, NA18508, NA18854, NA18635, NA18576, NA18960, NA10846, NA18976, NA19100, NA18515, NA19129, NA19094, NA19103, NA19238, NA19005, NA19119, NA19221, NA19131, NA19159, NA19145, NA18582, NA19101, NA19201, NA18995, NA19193, NA12812, NA19116, NA18852, NA18571, NA18611, NA19171, NA19200, NA19202, NA10854
Known GenesTPTE2P1
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)nsv442664
Frequency
Sample Size270
Observed Gain0
Observed Loss62
Observed Complex0
Frequencyn/a


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