Variant CNV_M1_HG19_22_45648416_45883644
Location: chr22:45648416-45883644 (235Kb)
Site classification: Duplication
Variant DCN frequency: 0.001
Genes Overlapped
Site classification: Duplication
Variant DCN frequency: 0.001
Genes Overlapped
FAM118A | GENE | protein FAM118A |
RIBC2 | GENE | RIB43A-like with coiled-coils protein 2 |
SMC1B | GENE | structural maintenance of chromosomes protein 1B |
UPK3A | GENE | uroplakin-3a precursor |
1000 Genomes Phase 1
Diploid copy number distribution
POP CN0 CN1 CN2 CN3 ASW 0 0 45 0 CEU 0 0 66 0 CHB 0 0 78 0 CHS 0 0 91 0 CLM 0 0 49 0 FIN 0 0 62 0 GBR 0 0 54 0 IBS 0 0 6 0 JPT 0 0 68 1 LWK 0 0 69 0 MXL 0 0 54 0 PUR 0 0 52 0 TSI 0 0 83 0 YRI 0 0 71 0 AFR 0 0 140 0 AFR+ 0 0 185 0 AMR 0 0 155 0 ASN 0 0 237 1 EUR 0 0 271 0 ALL 0 0 848 1
Diploid copy number distribution (95% confident)
POP CN0 CN1 CN2 CN3 ASW 0 0 45 0 CEU 0 0 66 0 CHB 0 0 78 0 CHS 0 0 91 0 CLM 0 0 49 0 FIN 0 0 62 0 GBR 0 0 54 0 IBS 0 0 6 0 JPT 0 0 68 1 LWK 0 0 69 0 MXL 0 0 54 0 PUR 0 0 52 0 TSI 0 0 83 0 YRI 0 0 71 0 AFR 0 0 140 0 AFR+ 0 0 185 0 AMR 0 0 155 0 ASN 0 0 237 1 EUR 0 0 271 0 ALL 0 0 848 1
Imputation spider plots: ASW CEU CHB CHS CLM FIN GBR IBS JPT LWK MXL PUR TSI YRI