A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv442830

Internal ID15154863
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:25266637..25335514hg38UCSC Ensembl
Innerchr1:25593128..25662005hg19UCSC Ensembl
Innerchr1:25465715..25534592hg18UCSC Ensembl
Innerchr1:25338444..25407321hg17UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1617726, nssv1617718, nssv1617679, nssv1617641, nssv1617659, nssv1617737, nssv1617678, nssv1617696, nssv1617698, nssv1617694, nssv1617673, nssv1617699, nssv1617688, nssv1617714, nssv1617730, nssv1617687, nssv1617651, nssv1617740, nssv1617665, nssv1617672, nssv1617741, nssv1617663, nssv1617644, nssv1617638, nssv1617722, nssv1617675, nssv1617695, nssv1617681, nssv1617689, nssv1617709, nssv1617690, nssv1617721, nssv1617668, nssv1617676, nssv1617671, nssv1617666, nssv1617649, nssv1617656, nssv1617744, nssv1617660, nssv1617635, nssv1617739, nssv1617640, nssv1617697, nssv1617655, nssv1617693, nssv1617712, nssv1617643, nssv1617661, nssv1617650, nssv1617637, nssv1617645, nssv1617692, nssv1617735, nssv1617633, nssv1617684, nssv1617648, nssv1617708, nssv1617734, nssv1617653, nssv1617742, nssv1617657, nssv1617728, nssv1617705, nssv1617677, nssv1617707, nssv1617717, nssv1617664, nssv1617727, nssv1617662, nssv1617683, nssv1617729, nssv1617731, nssv1617667, nssv1617711, nssv1617674, nssv1617703, nssv1617719, nssv1617706, nssv1617642, nssv1617745, nssv1617710, nssv1617700, nssv1617738, nssv1617723, nssv1617639, nssv1617716, nssv1617654, nssv1617715, nssv1617670, nssv1617701, nssv1617634, nssv1617732, nssv1617685, nssv1617733, nssv1617743, nssv1617682, nssv1617652, nssv1617704, nssv1617720, nssv1617686, nssv1617646
SamplesNA10859, NA10831, NA18964, NA12154, NA18863, NA12043, NA19194, NA18861, NA19192, NA18871, NA12802, NA19222, NA07056, NA19173, NA12752, NA19209, NA18526, NA10839, NA12815, NA18516, NA12707, NA06993, NA19203, NA12005, NA18855, NA18507, NA10855, NA18994, NA07029, NA12044, NA19143, NA19140, NA11882, NA12763, NA19211, NA12056, NA11839, NA11840, NA12753, NA07034, NA12004, NA18960, NA12864, NA07357, NA12873, NA18636, NA12740, NA12761, NA18609, NA11831, NA12234, NA12144, NA12751, NA12006, NA12145, NA12716, NA18620, NA18515, NA19172, NA19094, NA06985, NA19206, NA19102, NA19154, NA12057, NA10856, NA12872, NA19221, NA19131, NA19141, NA18940, NA11832, NA12891, NA10851, NA07055, NA18552, NA10860, NA06991, NA19193, NA18872, NA12156, NA10835, NA19132, NA10830, NA07022, NA12878, NA11830, NA11992, NA12003, NA10838, NA11993, NA12248, NA18571, NA11829, NA12236, NA19171, NA12874, NA06994, NA19092, NA19200, NA19202, NA10854
Known GenesRHD
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)nsv442830
Sample Size270
Observed Gain0
Observed Loss102
Observed Complex0

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