A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv442664

Internal ID15154697
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:24935708..24941205hg38UCSC Ensembl
Innerchr13:25509846..25515343hg19UCSC Ensembl
Innerchr13:24407846..24413343hg18UCSC Ensembl
Innerchr13:24407846..24413343hg17UCSC Ensembl
Allele length
AssemblyAllele length
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
Pubmed ID18776908
Accession Number(s)nsv442664
Sample Size270
Observed Gain0
Observed Loss62
Observed Complex0

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