Variant CNV_M2_HG19_7_72402420_72442357_7_72700438_72744454
Location: chr7:72402420-72442357 (39Kb), chr7:72700438-72744454 (44Kb), distance: 258Kb
Site classification: Multi-allelic
Variant DCN frequency: 0.005
Genes Overlapped
Site classification: Multi-allelic
Variant DCN frequency: 0.005
Genes Overlapped
| FKBP6 | CDS | peptidyl-prolyl cis-trans isomerase FKBP6 |
| NSUN5 | GENE | putative methyltransferase NSUN5 |
| POM121 | CDS | nuclear envelope pore membrane protein POM 121 isoform 1 |
| STAG3L3 | EXON | NA |
| TRIM50 | GENE | E3 ubiquitin-protein ligase TRIM50 |
| TRIM74 | GENE | tripartite motif-containing protein 74 |
1000 Genomes Phase 1
Diploid copy number distribution
POP CN0 CN1 CN2 CN3 CN4 CN5
ASW 0 0 0 0 43 2
CEU 0 0 0 0 66 0
CHB 0 0 0 0 78 0
CHS 0 0 0 0 90 1
CLM 0 0 0 0 49 0
FIN 0 0 0 0 60 2
GBR 0 0 0 0 54 0
IBS 0 0 0 0 6 0
JPT 0 0 0 2 67 0
LWK 0 0 0 0 69 0
MXL 0 0 0 0 53 1
PUR 0 0 0 1 51 0
TSI 0 0 0 0 83 0
YRI 0 0 0 0 70 1
AFR 0 0 0 0 139 1
AFR+ 0 0 0 0 182 3
AMR 0 0 0 1 153 1
ASN 0 0 0 2 235 1
EUR 0 0 0 0 269 2
ALL 0 0 0 3 839 7
Diploid copy number distribution (95% confident)
POP CN0 CN1 CN2 CN3 CN4 CN5
ASW 0 0 0 0 43 0
CEU 0 0 0 0 66 0
CHB 0 0 0 0 75 0
CHS 0 0 0 0 89 1
CLM 0 0 0 0 48 0
FIN 0 0 0 0 59 0
GBR 0 0 0 0 54 0
IBS 0 0 0 0 6 0
JPT 0 0 0 0 64 0
LWK 0 0 0 0 67 0
MXL 0 0 0 0 53 1
PUR 0 0 0 1 50 0
TSI 0 0 0 0 82 0
YRI 0 0 0 0 70 1
AFR 0 0 0 0 137 1
AFR+ 0 0 0 0 180 1
AMR 0 0 0 1 151 1
ASN 0 0 0 0 228 1
EUR 0 0 0 0 267 0
ALL 0 0 0 1 826 3
Imputation spider plots: ASW CEU CHB CHS CLM FIN GBR IBS JPT LWK MXL PUR TSI YRI