Variant CNV_M2_HG19_15_43851136_43950351_15_43950690_44041710
Location: chr15:43851136-43950351 (99Kb), chr15:43950690-44041710 (91Kb), distance: 338b
Site classification: Multi-allelic
Variant DCN frequency: 0.040
Genes Overlapped
Site classification: Multi-allelic
Variant DCN frequency: 0.040
Genes Overlapped
CATSPER2 | CDS | cation channel sperm-associated protein 2 |
CATSPER2 | EXON | cation channel sperm-associated protein 2 |
CKMT1A | GENE | creatine kinase U-type, mitochondrial |
CKMT1B | GENE | creatine kinase U-type, mitochondrial precursor |
PDIA3 | CDS | protein disulfide-isomerase A3 precursor |
PPIP5K1 | CDS | inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 1 |
STRC | CDS | stereocilin precursor |
STRC | EXON | stereocilin precursor |
1000 Genomes Phase 1
Diploid copy number distribution
POP CN0 CN1 CN2 CN3 CN4 CN5 ASW 0 0 0 1 44 0 CEU 0 0 0 2 64 0 CHB 0 0 0 2 76 0 CHS 0 0 0 3 88 0 CLM 0 0 0 2 43 4 FIN 0 0 0 3 59 0 GBR 0 0 0 4 49 1 IBS 0 0 0 0 6 0 JPT 0 0 0 1 66 2 LWK 0 0 0 2 66 1 MXL 0 0 0 0 54 0 PUR 0 0 0 1 50 1 TSI 0 0 0 1 81 1 YRI 0 0 0 3 67 1 AFR 0 0 0 5 133 2 AFR+ 0 0 0 6 177 2 AMR 0 0 0 3 147 5 ASN 0 0 0 6 230 2 EUR 0 0 0 10 259 2 ALL 0 0 0 25 813 11
Diploid copy number distribution (95% confident)
POP CN0 CN1 CN2 CN3 CN4 CN5 ASW 0 0 0 1 44 0 CEU 0 0 0 2 64 0 CHB 0 0 0 2 76 0 CHS 0 0 0 3 88 0 CLM 0 0 0 2 43 3 FIN 0 0 0 3 59 0 GBR 0 0 0 4 48 1 IBS 0 0 0 0 6 0 JPT 0 0 0 1 66 2 LWK 0 0 0 2 66 1 MXL 0 0 0 0 54 0 PUR 0 0 0 1 50 0 TSI 0 0 0 1 81 1 YRI 0 0 0 3 67 1 AFR 0 0 0 5 133 2 AFR+ 0 0 0 6 177 2 AMR 0 0 0 3 147 3 ASN 0 0 0 6 230 2 EUR 0 0 0 10 258 2 ALL 0 0 0 25 812 9
Imputation spider plots: ASW CEU CHB CHS CLM FIN GBR IBS JPT LWK MXL PUR TSI YRI