nsv821627
- Organism: Homo sapiens
- Study:nstd66 (Sebat et al. 2004)
- Variant Type:copy number variation
- Method Type:ROMA
- Submitted on:NCBI35 (hg17)
- Variant Calls:15
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,827,152
- 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: 8708 SVs from 121 studies. See in: genome view
Overlapping variant regions from other studies: 8459 SVs from 121 studies. See in: genome view
Overlapping variant regions from other studies: 159 SVs from 16 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv821627 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 88,853,776 | 91,680,927 |
| nsv821627 | Remapped | Pass | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 89,153,289 | 91,868,953 |
| nsv821627 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000002.9 | Chr2 | 88,992,551 | 91,290,827 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv1421302 | copy number gain | ROMA | Probe signal intensity |
| nssv1421313 | copy number gain | ROMA | Probe signal intensity |
| nssv1421324 | copy number gain | ROMA | Probe signal intensity |
| nssv1421335 | copy number gain | ROMA | Probe signal intensity |
| nssv1421336 | copy number gain | ROMA | Probe signal intensity |
| nssv1421337 | copy number gain | ROMA | Probe signal intensity |
| nssv1421338 | copy number gain | ROMA | Probe signal intensity |
| nssv1421339 | copy number gain | ROMA | Probe signal intensity |
| nssv1421340 | copy number gain | ROMA | Probe signal intensity |
| nssv1421342 | copy number gain | ROMA | Probe signal intensity |
| nssv1421343 | copy number gain | ROMA | Probe signal intensity |
| nssv1421344 | copy number gain | ROMA | Probe signal intensity |
| nssv1421345 | copy number gain | ROMA | Probe signal intensity |
| nssv1421346 | copy number gain | ROMA | Probe signal intensity |
| nssv1421347 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv1421302 | Remapped | Pass | NC_000002.12:g.(?_ 88853776)_(9168092 7_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 88,853,776 | 91,680,927 |
| nssv1421313 | Remapped | Pass | NC_000002.12:g.(?_ 88853776)_(9168092 7_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 88,853,776 | 91,680,927 |
| nssv1421324 | Remapped | Pass | NC_000002.12:g.(?_ 88853776)_(9168092 7_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 88,853,776 | 91,680,927 |
| nssv1421335 | Remapped | Pass | NC_000002.12:g.(?_ 88853776)_(9168092 7_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 88,853,776 | 91,680,927 |
| nssv1421336 | Remapped | Pass | NC_000002.12:g.(?_ 88853776)_(9168092 7_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 88,853,776 | 91,680,927 |
| nssv1421337 | Remapped | Pass | NC_000002.12:g.(?_ 88853776)_(9168092 7_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 88,853,776 | 91,680,927 |
| nssv1421338 | Remapped | Pass | NC_000002.12:g.(?_ 88853776)_(9168092 7_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 88,853,776 | 91,680,927 |
| nssv1421339 | Remapped | Pass | NC_000002.12:g.(?_ 88853776)_(9168092 7_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 88,853,776 | 91,680,927 |
| nssv1421340 | Remapped | Pass | NC_000002.12:g.(?_ 88853776)_(9168092 7_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 88,853,776 | 91,680,927 |
| nssv1421342 | Remapped | Pass | NC_000002.12:g.(?_ 88853776)_(9168092 7_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 88,853,776 | 91,680,927 |
| nssv1421343 | Remapped | Pass | NC_000002.12:g.(?_ 88853776)_(9168092 7_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 88,853,776 | 91,680,927 |
| nssv1421344 | Remapped | Pass | NC_000002.12:g.(?_ 88853776)_(9168092 7_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 88,853,776 | 91,680,927 |
| nssv1421345 | Remapped | Pass | NC_000002.12:g.(?_ 88853776)_(9168092 7_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 88,853,776 | 91,680,927 |
| nssv1421346 | Remapped | Pass | NC_000002.12:g.(?_ 88853776)_(9168092 7_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 88,853,776 | 91,680,927 |
| nssv1421347 | Remapped | Pass | NC_000002.12:g.(?_ 88853776)_(9168092 7_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 88,853,776 | 91,680,927 |
| nssv1421302 | Remapped | Pass | NC_000002.11:g.(?_ 89153289)_(9186895 3_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 89,153,289 | 91,868,953 |
| nssv1421313 | Remapped | Pass | NC_000002.11:g.(?_ 89153289)_(9186895 3_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 89,153,289 | 91,868,953 |
| nssv1421324 | Remapped | Pass | NC_000002.11:g.(?_ 89153289)_(9186895 3_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 89,153,289 | 91,868,953 |
| nssv1421335 | Remapped | Pass | NC_000002.11:g.(?_ 89153289)_(9186895 3_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 89,153,289 | 91,868,953 |
| nssv1421336 | Remapped | Pass | NC_000002.11:g.(?_ 89153289)_(9186895 3_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 89,153,289 | 91,868,953 |
| nssv1421337 | Remapped | Pass | NC_000002.11:g.(?_ 89153289)_(9186895 3_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 89,153,289 | 91,868,953 |
| nssv1421338 | Remapped | Pass | NC_000002.11:g.(?_ 89153289)_(9186895 3_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 89,153,289 | 91,868,953 |
| nssv1421339 | Remapped | Pass | NC_000002.11:g.(?_ 89153289)_(9186895 3_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 89,153,289 | 91,868,953 |
| nssv1421340 | Remapped | Pass | NC_000002.11:g.(?_ 89153289)_(9186895 3_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 89,153,289 | 91,868,953 |
| nssv1421342 | Remapped | Pass | NC_000002.11:g.(?_ 89153289)_(9186895 3_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 89,153,289 | 91,868,953 |
| nssv1421343 | Remapped | Pass | NC_000002.11:g.(?_ 89153289)_(9186895 3_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 89,153,289 | 91,868,953 |
| nssv1421344 | Remapped | Pass | NC_000002.11:g.(?_ 89153289)_(9186895 3_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 89,153,289 | 91,868,953 |
| nssv1421345 | Remapped | Pass | NC_000002.11:g.(?_ 89153289)_(9186895 3_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 89,153,289 | 91,868,953 |
| nssv1421346 | Remapped | Pass | NC_000002.11:g.(?_ 89153289)_(9186895 3_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 89,153,289 | 91,868,953 |
| nssv1421347 | Remapped | Pass | NC_000002.11:g.(?_ 89153289)_(9186895 3_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 89,153,289 | 91,868,953 |
| nssv1421302 | Submitted genomic | NC_000002.9:g.(?_8 8992551)_(91290827 _?)dup | NCBI35 (hg17) | NC_000002.9 | Chr2 | 88,992,551 | 91,290,827 | ||
| nssv1421313 | Submitted genomic | NC_000002.9:g.(?_8 8992551)_(91290827 _?)dup | NCBI35 (hg17) | NC_000002.9 | Chr2 | 88,992,551 | 91,290,827 | ||
| nssv1421324 | Submitted genomic | NC_000002.9:g.(?_8 8992551)_(91290827 _?)dup | NCBI35 (hg17) | NC_000002.9 | Chr2 | 88,992,551 | 91,290,827 | ||
| nssv1421335 | Submitted genomic | NC_000002.9:g.(?_8 8992551)_(91290827 _?)dup | NCBI35 (hg17) | NC_000002.9 | Chr2 | 88,992,551 | 91,290,827 | ||
| nssv1421336 | Submitted genomic | NC_000002.9:g.(?_8 8992551)_(91290827 _?)dup | NCBI35 (hg17) | NC_000002.9 | Chr2 | 88,992,551 | 91,290,827 | ||
| nssv1421337 | Submitted genomic | NC_000002.9:g.(?_8 8992551)_(91290827 _?)dup | NCBI35 (hg17) | NC_000002.9 | Chr2 | 88,992,551 | 91,290,827 | ||
| nssv1421338 | Submitted genomic | NC_000002.9:g.(?_8 8992551)_(91290827 _?)dup | NCBI35 (hg17) | NC_000002.9 | Chr2 | 88,992,551 | 91,290,827 | ||
| nssv1421339 | Submitted genomic | NC_000002.9:g.(?_8 8992551)_(91290827 _?)dup | NCBI35 (hg17) | NC_000002.9 | Chr2 | 88,992,551 | 91,290,827 | ||
| nssv1421340 | Submitted genomic | NC_000002.9:g.(?_8 8992551)_(91290827 _?)dup | NCBI35 (hg17) | NC_000002.9 | Chr2 | 88,992,551 | 91,290,827 | ||
| nssv1421342 | Submitted genomic | NC_000002.9:g.(?_8 8992551)_(91290827 _?)dup | NCBI35 (hg17) | NC_000002.9 | Chr2 | 88,992,551 | 91,290,827 | ||
| nssv1421343 | Submitted genomic | NC_000002.9:g.(?_8 8992551)_(91290827 _?)dup | NCBI35 (hg17) | NC_000002.9 | Chr2 | 88,992,551 | 91,290,827 | ||
| nssv1421344 | Submitted genomic | NC_000002.9:g.(?_8 8992551)_(91290827 _?)dup | NCBI35 (hg17) | NC_000002.9 | Chr2 | 88,992,551 | 91,290,827 | ||
| nssv1421345 | Submitted genomic | NC_000002.9:g.(?_8 8992551)_(91290827 _?)dup | NCBI35 (hg17) | NC_000002.9 | Chr2 | 88,992,551 | 91,290,827 | ||
| nssv1421346 | Submitted genomic | NC_000002.9:g.(?_8 8992551)_(91290827 _?)dup | NCBI35 (hg17) | NC_000002.9 | Chr2 | 88,992,551 | 91,290,827 | ||
| nssv1421347 | Submitted genomic | NC_000002.9:g.(?_8 8992551)_(91290827 _?)dup | NCBI35 (hg17) | NC_000002.9 | Chr2 | 88,992,551 | 91,290,827 |