Variant CNV_M2_HG19_5_68829717_68908477_5_70311052_70389823
Location: chr5:68829717-68908477 (78Kb), chr5:70311052-70389823 (78Kb), distance: 1.4Mb
Site classification: Multi-allelic
Variant DCN frequency: 0.559
Genes Overlapped
Site classification: Multi-allelic
Variant DCN frequency: 0.559
Genes Overlapped
| GTF2H2 | GENE | general transcription factor IIH subunit 2 |
| GTF2H2C | GENE | general transcription factor IIH subunit 2-like protein |
| NAIP | CDS | baculoviral IAP repeat-containing protein 1 isoform 1 |
| OCLN | CDS | occludin isoform b precursor |
1000 Genomes Phase 1
Diploid copy number distribution
POP CN0 CN1 CN2 CN3 CN4 CN5 CN6
ASW 0 0 0 6 19 20 0
CEU 0 0 0 15 30 18 3
CHB 0 0 0 42 34 2 0
CHS 0 0 0 34 45 12 0
CLM 0 0 0 8 26 13 2
FIN 0 0 0 11 29 21 1
GBR 0 0 0 12 25 15 2
IBS 0 0 0 2 3 1 0
JPT 0 0 0 24 34 10 1
LWK 0 0 0 5 21 34 9
MXL 0 0 0 12 21 19 2
PUR 0 0 0 10 26 16 0
TSI 0 0 0 9 47 24 3
YRI 0 0 0 4 22 43 2
AFR 0 0 0 9 43 77 11
AFR+ 0 0 0 15 62 97 11
AMR 0 0 0 30 73 48 4
ASN 0 0 0 100 113 24 1
EUR 0 0 0 49 134 79 9
ALL 0 0 0 194 382 248 25
Diploid copy number distribution (95% confident)
POP CN0 CN1 CN2 CN3 CN4 CN5 CN6
ASW 0 0 0 6 15 11 0
CEU 0 0 0 14 27 15 2
CHB 0 0 0 42 27 1 0
CHS 0 0 0 31 34 6 0
CLM 0 0 0 8 19 12 1
FIN 0 0 0 9 23 16 1
GBR 0 0 0 12 16 11 1
IBS 0 0 0 1 1 1 0
JPT 0 0 0 24 31 9 1
LWK 0 0 0 4 11 26 9
MXL 0 0 0 11 14 15 1
PUR 0 0 0 9 24 10 0
TSI 0 0 0 8 47 20 2
YRI 0 0 0 4 20 36 2
AFR 0 0 0 8 31 62 11
AFR+ 0 0 0 14 46 73 11
AMR 0 0 0 28 57 37 2
ASN 0 0 0 97 92 16 1
EUR 0 0 0 44 114 63 6
ALL 0 0 0 183 309 189 20
Imputation spider plots: ASW CEU CHB CHS CLM FIN GBR IBS JPT LWK MXL PUR TSI YRI