nsv4382642
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:20
- Validation:Not tested
- Clinical Assertions: No
- Region Size:151,251
- Publication(s):Zarrei et al. 2019
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1934 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 1934 SVs from 91 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4382642 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,540,503 |
| nsv4382642 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 39,246,772 | 39,398,022 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15612332 | copy number gain | 1-0663-003 | SNP array | Genotyping | 8 |
| nssv15613284 | copy number gain | 1-0121-001 | SNP array | Genotyping | 28 |
| nssv15620266 | copy number gain | 1-0955-003 | SNP array | Genotyping | 22 |
| nssv15622987 | copy number gain | 1-0236-003 | SNP array | Genotyping | 29 |
| nssv15635638 | copy number gain | 11-0048-003 | SNP array | Genotyping | 35 |
| nssv15640415 | copy number gain | 14-0152-004 | SNP array | Genotyping | 19 |
| nssv15640766 | copy number gain | 14-0382-001 | SNP array | Genotyping | 30 |
| nssv15645625 | copy number gain | 16-1020-001 | SNP array | Genotyping | 18 |
| nssv15647153 | copy number gain | 2-1006-004 | SNP array | Genotyping | 22 |
| nssv15650081 | copy number gain | 2-1294-003 | SNP array | Genotyping | 21 |
| nssv15656954 | copy number gain | 3-0666-000 | SNP array | Genotyping | 24 |
| nssv15659106 | copy number gain | 4-0062-002 | SNP array | Genotyping | 36 |
| nssv15683860 | copy number gain | OCD135-896463 | SNP array | Genotyping | 19 |
| nssv15688175 | copy number gain | 209349 | SNP array | Genotyping | 17 |
| nssv15689872 | copy number gain | OCD1152-S_HAM563 | SNP array | Genotyping | 22 |
| nssv15689927 | copy number gain | OCD1159-S_HAM553 | SNP array | Genotyping | 17 |
| nssv15690445 | copy number gain | OCD143-DH-1299(189273) | SNP array | Genotyping | 21 |
| nssv15696125 | copy number gain | 197232 | SNP array | Genotyping | 24 |
| nssv15697683 | copy number gain | 197699 | SNP array | Genotyping | 20 |
| nssv15699403 | copy number gain | 102591 | SNP array | Genotyping | 23 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15612332 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3954050 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,540,503 |
| nssv15613284 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3954050 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,540,503 |
| nssv15620266 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3954050 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,540,503 |
| nssv15622987 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3954050 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,540,503 |
| nssv15635638 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3954050 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,540,503 |
| nssv15640415 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3954050 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,540,503 |
| nssv15640766 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3954050 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,540,503 |
| nssv15645625 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3954050 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,540,503 |
| nssv15647153 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3954050 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,540,503 |
| nssv15650081 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3954050 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,540,503 |
| nssv15656954 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3954050 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,540,503 |
| nssv15659106 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3954050 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,540,503 |
| nssv15683860 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3954050 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,540,503 |
| nssv15688175 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3954050 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,540,503 |
| nssv15689872 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3954050 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,540,503 |
| nssv15689927 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3954050 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,540,503 |
| nssv15690445 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3954050 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,540,503 |
| nssv15696125 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3954050 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,540,503 |
| nssv15697683 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3954050 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,540,503 |
| nssv15699403 | Remapped | Perfect | NC_000008.11:g.(?_ 39389253)_(3954050 3_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,389,253 | 39,540,503 |
| nssv15612332 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3939802 2_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,398,022 | ||
| nssv15613284 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3939802 2_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,398,022 | ||
| nssv15620266 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3939802 2_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,398,022 | ||
| nssv15622987 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3939802 2_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,398,022 | ||
| nssv15635638 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3939802 2_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,398,022 | ||
| nssv15640415 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3939802 2_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,398,022 | ||
| nssv15640766 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3939802 2_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,398,022 | ||
| nssv15645625 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3939802 2_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,398,022 | ||
| nssv15647153 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3939802 2_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,398,022 | ||
| nssv15650081 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3939802 2_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,398,022 | ||
| nssv15656954 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3939802 2_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,398,022 | ||
| nssv15659106 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3939802 2_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,398,022 | ||
| nssv15683860 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3939802 2_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,398,022 | ||
| nssv15688175 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3939802 2_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,398,022 | ||
| nssv15689872 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3939802 2_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,398,022 | ||
| nssv15689927 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3939802 2_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,398,022 | ||
| nssv15690445 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3939802 2_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,398,022 | ||
| nssv15696125 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3939802 2_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,398,022 | ||
| nssv15697683 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3939802 2_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,398,022 | ||
| nssv15699403 | Submitted genomic | NC_000008.10:g.(?_ 39246772)_(3939802 2_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,246,772 | 39,398,022 |