nsv821684
- Organism: Homo sapiens
- Study:nstd66 (Sebat et al. 2004)
- Variant Type:copy number variation
- Method Type:ROMA
- Submitted on:NCBI35 (hg17)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,659,030
- 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: 8424 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 8528 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 50 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv821684 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 32,164,068 | 33,823,097 |
| nsv821684 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 32,175,389 | 33,625,564 |
| nsv821684 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000016.8 | Chr16 | 32,082,890 | 33,533,065 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv1421317 | copy number gain | ROMA | Probe signal intensity |
| nssv1421318 | copy number gain | ROMA | Probe signal intensity |
| nssv1421319 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv1421317 | Remapped | Pass | NC_000016.10:g.(?_ 32164068)_(3382309 7_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 32,164,068 | 33,823,097 |
| nssv1421318 | Remapped | Pass | NC_000016.10:g.(?_ 32164068)_(3382309 7_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 32,164,068 | 33,823,097 |
| nssv1421319 | Remapped | Pass | NC_000016.10:g.(?_ 32164068)_(3382309 7_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 32,164,068 | 33,823,097 |
| nssv1421317 | Remapped | Perfect | NC_000016.9:g.(?_3 2175389)_(33625564 _?)dup | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 32,175,389 | 33,625,564 |
| nssv1421318 | Remapped | Perfect | NC_000016.9:g.(?_3 2175389)_(33625564 _?)dup | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 32,175,389 | 33,625,564 |
| nssv1421319 | Remapped | Perfect | NC_000016.9:g.(?_3 2175389)_(33625564 _?)dup | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 32,175,389 | 33,625,564 |
| nssv1421317 | Submitted genomic | NC_000016.8:g.(?_3 2082890)_(33533065 _?)dup | NCBI35 (hg17) | NC_000016.8 | Chr16 | 32,082,890 | 33,533,065 | ||
| nssv1421318 | Submitted genomic | NC_000016.8:g.(?_3 2082890)_(33533065 _?)dup | NCBI35 (hg17) | NC_000016.8 | Chr16 | 32,082,890 | 33,533,065 | ||
| nssv1421319 | Submitted genomic | NC_000016.8:g.(?_3 2082890)_(33533065 _?)dup | NCBI35 (hg17) | NC_000016.8 | Chr16 | 32,082,890 | 33,533,065 |