nsv821680
- Organism: Homo sapiens
- Study:nstd66 (Sebat et al. 2004)
- Variant Type:copy number variation
- Method Type:ROMA
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:312,657
- 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: 1846 SVs from 106 studies. See in: genome view
Overlapping variant regions from other studies: 925 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 1070 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 1846 SVs from 106 studies. See in: genome view
Overlapping variant regions from other studies: 101 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv821680 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 31,788,553 | 32,101,156 |
| nsv821680 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187660.1 | Chr15|NT_1 87660.1 | 4,073,642 | 4,386,298 |
| nsv821680 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 3,961,190 | 4,273,846 |
| nsv821680 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000015.9 | Chr15 | 32,080,756 | 32,393,359 |
| nsv821680 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000015.8 | Chr15 | 29,868,048 | 30,180,651 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv1421309 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv1421309 | Remapped | Good | NT_187660.1:g.(?_4 073642)_(4386298_? )dup | GRCh38.p12 | Second Pass | NT_187660.1 | Chr15|NT_1 87660.1 | 4,073,642 | 4,386,298 |
| nssv1421309 | Remapped | Good | NW_011332701.1:g.( ?_3961190)_(427384 6_?)dup | GRCh38.p12 | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 3,961,190 | 4,273,846 |
| nssv1421309 | Remapped | Perfect | NC_000015.10:g.(?_ 31788553)_(3210115 6_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 31,788,553 | 32,101,156 |
| nssv1421309 | Remapped | Perfect | NC_000015.9:g.(?_3 2080756)_(32393359 _?)dup | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 32,080,756 | 32,393,359 |
| nssv1421309 | Submitted genomic | NC_000015.8:g.(?_2 9868048)_(30180651 _?)dup | NCBI35 (hg17) | NC_000015.8 | Chr15 | 29,868,048 | 30,180,651 |