A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428142



Internal ID18277906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32403976..32799575hg38UCSC Ensembl
Innerchr6:32371753..32767352hg19UCSC Ensembl
Innerchr6:32479731..32875330hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38395600
hg19395600
hg18395600
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv450693, nssv450732, nssv450702, nssv450654, nssv450715, nssv450691, nssv450690, nssv450716, nssv450703, nssv450697, nssv450682, nssv450659, nssv450727, nssv450657, nssv450721, nssv450735, nssv450713, nssv450655, nssv450725, nssv450694, nssv450711, nssv450730, nssv450723, nssv450714, nssv450685, nssv450724, nssv450656, nssv450728, nssv450701, nssv450726, nssv450733, nssv450683, nssv450658, nssv450717, nssv450706, nssv450707, nssv450734, nssv450729, nssv450695, nssv450704, nssv450718, nssv450688, nssv450705, nssv450722, nssv450708, nssv450689, nssv450712, nssv450700, nssv450692, nssv450719, nssv450699, nssv450696, nssv450710
SamplesHGDP01087, HGDP00462, HGDP01093, HGDP00463, HGDP01088, HGDP01089, NA18916, NA18498, HGDP00476, NA19189, HGDP00460, HGDP00450, HGDP00473, HGDP00986, NA19181, NA19113, NA19257, NA19225, NA19108, HGDP01094, HGDP00984, HGDP00472, HGDP00474, HGDP00471, NA19096, HGDP00478, HGDP01086, HGDP00449
Known GenesBTNL2, HLA-DQA1, HLA-DQA2, HLA-DQB1, HLA-DQB2, HLA-DRA, HLA-DRB1, HLA-DRB5, HLA-DRB6
MethodBAC aCGH
AnalysisCopy number variable segments were automatically detected using the CNVfinder algorithm (Fiegler et al. 2006).
PlatformSanger H. sapiens Whole Genome Tile Path 28.7k v3
Comments
ReferencePerry_et_al_2008b
Pubmed ID18775914
Accession Number(s)nsv428142
Frequency
Sample Size62
Observed Gain22
Observed Loss27
Observed Complex0
Frequencyn/a


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