nsv821644
- Organism: Homo sapiens
- Study:nstd66 (Sebat et al. 2004)
- Variant Type:copy number variation
- Method Type:ROMA
- Submitted on:NCBI35 (hg17)
- Variant Calls:9
- Validation:Not tested
- Clinical Assertions: No
- Region Size:228,718
- Publication(s):Sebat et al. 2004
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: 2628 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 2628 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 140 SVs from 14 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv821644 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 182,761 | 411,478 |
| nsv821644 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 182,761 | 411,478 |
| nsv821644 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000006.9 | Chr6 | 127,761 | 356,478 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv1421403 | copy number gain | ROMA | Probe signal intensity |
| nssv1421404 | copy number gain | ROMA | Probe signal intensity |
| nssv1421405 | copy number gain | ROMA | Probe signal intensity |
| nssv1421406 | copy number gain | ROMA | Probe signal intensity |
| nssv1421408 | copy number gain | ROMA | Probe signal intensity |
| nssv1421409 | copy number gain | ROMA | Probe signal intensity |
| nssv1421410 | copy number gain | ROMA | Probe signal intensity |
| nssv1421411 | copy number gain | ROMA | Probe signal intensity |
| nssv1421412 | copy number gain | ROMA | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1421403 | Remapped | Perfect | NC_000006.12:g.(?_ 182761)_(411478_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 182,761 | 411,478 |
| nssv1421404 | Remapped | Perfect | NC_000006.12:g.(?_ 182761)_(411478_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 182,761 | 411,478 |
| nssv1421405 | Remapped | Perfect | NC_000006.12:g.(?_ 182761)_(411478_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 182,761 | 411,478 |
| nssv1421406 | Remapped | Perfect | NC_000006.12:g.(?_ 182761)_(411478_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 182,761 | 411,478 |
| nssv1421408 | Remapped | Perfect | NC_000006.12:g.(?_ 182761)_(411478_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 182,761 | 411,478 |
| nssv1421409 | Remapped | Perfect | NC_000006.12:g.(?_ 182761)_(411478_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 182,761 | 411,478 |
| nssv1421410 | Remapped | Perfect | NC_000006.12:g.(?_ 182761)_(411478_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 182,761 | 411,478 |
| nssv1421411 | Remapped | Perfect | NC_000006.12:g.(?_ 182761)_(411478_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 182,761 | 411,478 |
| nssv1421412 | Remapped | Perfect | NC_000006.12:g.(?_ 182761)_(411478_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 182,761 | 411,478 |
| nssv1421403 | Remapped | Perfect | NC_000006.11:g.(?_ 182761)_(411478_?) dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 182,761 | 411,478 |
| nssv1421404 | Remapped | Perfect | NC_000006.11:g.(?_ 182761)_(411478_?) dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 182,761 | 411,478 |
| nssv1421405 | Remapped | Perfect | NC_000006.11:g.(?_ 182761)_(411478_?) dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 182,761 | 411,478 |
| nssv1421406 | Remapped | Perfect | NC_000006.11:g.(?_ 182761)_(411478_?) dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 182,761 | 411,478 |
| nssv1421408 | Remapped | Perfect | NC_000006.11:g.(?_ 182761)_(411478_?) dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 182,761 | 411,478 |
| nssv1421409 | Remapped | Perfect | NC_000006.11:g.(?_ 182761)_(411478_?) dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 182,761 | 411,478 |
| nssv1421410 | Remapped | Perfect | NC_000006.11:g.(?_ 182761)_(411478_?) dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 182,761 | 411,478 |
| nssv1421411 | Remapped | Perfect | NC_000006.11:g.(?_ 182761)_(411478_?) dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 182,761 | 411,478 |
| nssv1421412 | Remapped | Perfect | NC_000006.11:g.(?_ 182761)_(411478_?) dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 182,761 | 411,478 |
| nssv1421403 | Submitted genomic | NC_000006.9:g.(?_1 27761)_(356478_?)d up | NCBI35 (hg17) | NC_000006.9 | Chr6 | 127,761 | 356,478 | ||
| nssv1421404 | Submitted genomic | NC_000006.9:g.(?_1 27761)_(356478_?)d up | NCBI35 (hg17) | NC_000006.9 | Chr6 | 127,761 | 356,478 | ||
| nssv1421405 | Submitted genomic | NC_000006.9:g.(?_1 27761)_(356478_?)d up | NCBI35 (hg17) | NC_000006.9 | Chr6 | 127,761 | 356,478 | ||
| nssv1421406 | Submitted genomic | NC_000006.9:g.(?_1 27761)_(356478_?)d up | NCBI35 (hg17) | NC_000006.9 | Chr6 | 127,761 | 356,478 | ||
| nssv1421408 | Submitted genomic | NC_000006.9:g.(?_1 27761)_(356478_?)d up | NCBI35 (hg17) | NC_000006.9 | Chr6 | 127,761 | 356,478 | ||
| nssv1421409 | Submitted genomic | NC_000006.9:g.(?_1 27761)_(356478_?)d up | NCBI35 (hg17) | NC_000006.9 | Chr6 | 127,761 | 356,478 | ||
| nssv1421410 | Submitted genomic | NC_000006.9:g.(?_1 27761)_(356478_?)d up | NCBI35 (hg17) | NC_000006.9 | Chr6 | 127,761 | 356,478 | ||
| nssv1421411 | Submitted genomic | NC_000006.9:g.(?_1 27761)_(356478_?)d up | NCBI35 (hg17) | NC_000006.9 | Chr6 | 127,761 | 356,478 | ||
| nssv1421412 | Submitted genomic | NC_000006.9:g.(?_1 27761)_(356478_?)d up | NCBI35 (hg17) | NC_000006.9 | Chr6 | 127,761 | 356,478 |