Variant CNV_M2_HG19_5_69124876_69425564_5_70000001_70300987
Location: chr5:69124876-69425564 (300Kb), chr5:70000001-70300987 (300Kb), distance: 574Kb
Site classification: Multi-allelic
Variant DCN frequency: 0.367
Genes Overlapped
Site classification: Multi-allelic
Variant DCN frequency: 0.367
Genes Overlapped
| NAIP | CDS | baculoviral IAP repeat-containing protein 1 isoform 1 |
| SERF1A | GENE | small EDRK-rich factor 1 |
| SERF1B | GENE | small EDRK-rich factor 1 isoform 2 |
| SMN1 | GENE | survival of motor neuron 1, telomeric |
| SMN2 | GENE | survival motor neuron protein isoform b |
1000 Genomes Phase 1
Diploid copy number distribution
POP CN0 CN1 CN2 CN3 CN4 CN5 CN6
ASW 0 0 2 18 24 1 0
CEU 0 0 3 14 46 3 0
CHB 0 0 1 22 51 4 0
CHS 0 0 2 30 57 2 0
CLM 0 0 2 10 35 2 0
FIN 0 0 1 22 36 3 0
GBR 0 0 5 8 36 4 1
IBS 0 0 1 2 2 1 0
JPT 0 0 1 28 38 2 0
LWK 0 0 4 15 48 1 1
MXL 0 0 2 17 33 2 0
PUR 0 0 1 17 32 2 0
TSI 0 0 4 17 58 4 0
YRI 0 0 4 28 38 1 0
AFR 0 0 8 43 86 2 1
AFR+ 0 0 10 61 110 3 1
AMR 0 0 5 44 100 6 0
ASN 0 0 4 80 146 8 0
EUR 0 0 14 63 178 15 1
ALL 0 0 33 248 534 32 2
Diploid copy number distribution (95% confident)
POP CN0 CN1 CN2 CN3 CN4 CN5 CN6
ASW 0 0 2 18 24 1 0
CEU 0 0 3 14 46 3 0
CHB 0 0 1 22 51 3 0
CHS 0 0 2 29 57 2 0
CLM 0 0 2 9 35 1 0
FIN 0 0 1 22 34 2 0
GBR 0 0 5 8 34 2 1
IBS 0 0 1 2 2 0 0
JPT 0 0 1 28 38 2 0
LWK 0 0 4 14 44 1 1
MXL 0 0 2 16 30 2 0
PUR 0 0 1 15 32 2 0
TSI 0 0 4 17 55 3 0
YRI 0 0 4 28 38 1 0
AFR 0 0 8 42 82 2 1
AFR+ 0 0 10 60 106 3 1
AMR 0 0 5 40 97 5 0
ASN 0 0 4 79 146 7 0
EUR 0 0 14 63 171 10 1
ALL 0 0 33 242 520 25 2
Imputation spider plots: ASW CEU CHB CHS CLM FIN GBR IBS JPT LWK MXL PUR TSI YRI