nsv1193686
- Organism: Homo sapiens
- Study:nstd113 (Polyak et al. 2015)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:9
- Validation:Not tested
- Clinical Assertions: No
- Region Size:60,787
- Publication(s):Polyak et al. 2015
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: 1052 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 878 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 336 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 344 SVs from 24 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1193686 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 145,748,062 | 145,808,848 |
| nsv1193686 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 145,626,236 | 145,687,024 |
| nsv1193686 | Remapped | Good | GRCh37.p13 | PATCHES | Second Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 2,563,475 | 2,624,261 |
| nsv1193686 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 144,337,593 | 144,398,381 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7459426 | copy number loss | 22973 | Oligo aCGH | Probe signal intensity | nssv7473250, nssv7473578, nssv7468627 |
| nssv7461599 | copy number gain | 22916 | Oligo aCGH | Probe signal intensity | nssv7462663, nssv7466542, nssv7474106 |
| nssv7462995 | copy number gain | 15063 | Oligo aCGH | Probe signal intensity | nssv7465326 |
| nssv7466349 | copy number gain | 30314 | Oligo aCGH | Probe signal intensity | nssv7468133, nssv7471342 |
| nssv7466777 | copy number gain | 30256 | Oligo aCGH | Probe signal intensity | nssv7472125 |
| nssv7467167 | copy number gain | 17874 | Oligo aCGH | Probe signal intensity | nssv7462217 |
| nssv7469768 | copy number loss | 30153 | Oligo aCGH | Probe signal intensity | nssv7475119 |
| nssv7470763 | copy number loss | 18161 | Oligo aCGH | Probe signal intensity | nssv7468809 |
| nssv7472277 | copy number gain | 19674 | Oligo aCGH | Probe signal intensity | nssv7466833, nssv7472850 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7459426 | Remapped | Good | NC_000001.11:g.(?_ 145748062)_(145808 848_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 145,748,062 | 145,808,848 |
| nssv7461599 | Remapped | Good | NC_000001.11:g.(?_ 145748062)_(145808 848_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 145,748,062 | 145,808,848 |
| nssv7462995 | Remapped | Good | NC_000001.11:g.(?_ 145748062)_(145808 848_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 145,748,062 | 145,808,848 |
| nssv7466349 | Remapped | Good | NC_000001.11:g.(?_ 145748062)_(145808 848_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 145,748,062 | 145,808,848 |
| nssv7466777 | Remapped | Good | NC_000001.11:g.(?_ 145748062)_(145808 848_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 145,748,062 | 145,808,848 |
| nssv7467167 | Remapped | Good | NC_000001.11:g.(?_ 145748062)_(145808 848_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 145,748,062 | 145,808,848 |
| nssv7469768 | Remapped | Good | NC_000001.11:g.(?_ 145748062)_(145808 848_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 145,748,062 | 145,808,848 |
| nssv7470763 | Remapped | Good | NC_000001.11:g.(?_ 145748062)_(145808 848_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 145,748,062 | 145,808,848 |
| nssv7472277 | Remapped | Good | NC_000001.11:g.(?_ 145748062)_(145808 848_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 145,748,062 | 145,808,848 |
| nssv7459426 | Remapped | Good | NW_003871055.3:g.( ?_2563475)_(262426 1_?)del | GRCh37.p13 | Second Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 2,563,475 | 2,624,261 |
| nssv7461599 | Remapped | Good | NW_003871055.3:g.( ?_2563475)_(262426 1_?)dup | GRCh37.p13 | Second Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 2,563,475 | 2,624,261 |
| nssv7462995 | Remapped | Good | NW_003871055.3:g.( ?_2563475)_(262426 1_?)dup | GRCh37.p13 | Second Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 2,563,475 | 2,624,261 |
| nssv7466349 | Remapped | Good | NW_003871055.3:g.( ?_2563475)_(262426 1_?)dup | GRCh37.p13 | Second Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 2,563,475 | 2,624,261 |
| nssv7466777 | Remapped | Good | NW_003871055.3:g.( ?_2563475)_(262426 1_?)dup | GRCh37.p13 | Second Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 2,563,475 | 2,624,261 |
| nssv7467167 | Remapped | Good | NW_003871055.3:g.( ?_2563475)_(262426 1_?)dup | GRCh37.p13 | Second Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 2,563,475 | 2,624,261 |
| nssv7469768 | Remapped | Good | NW_003871055.3:g.( ?_2563475)_(262426 1_?)del | GRCh37.p13 | Second Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 2,563,475 | 2,624,261 |
| nssv7470763 | Remapped | Good | NW_003871055.3:g.( ?_2563475)_(262426 1_?)del | GRCh37.p13 | Second Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 2,563,475 | 2,624,261 |
| nssv7472277 | Remapped | Good | NW_003871055.3:g.( ?_2563475)_(262426 1_?)dup | GRCh37.p13 | Second Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 2,563,475 | 2,624,261 |
| nssv7459426 | Remapped | Perfect | NC_000001.10:g.(?_ 145626236)_(145687 024_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 145,626,236 | 145,687,024 |
| nssv7461599 | Remapped | Perfect | NC_000001.10:g.(?_ 145626236)_(145687 024_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 145,626,236 | 145,687,024 |
| nssv7462995 | Remapped | Perfect | NC_000001.10:g.(?_ 145626236)_(145687 024_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 145,626,236 | 145,687,024 |
| nssv7466349 | Remapped | Perfect | NC_000001.10:g.(?_ 145626236)_(145687 024_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 145,626,236 | 145,687,024 |
| nssv7466777 | Remapped | Perfect | NC_000001.10:g.(?_ 145626236)_(145687 024_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 145,626,236 | 145,687,024 |
| nssv7467167 | Remapped | Perfect | NC_000001.10:g.(?_ 145626236)_(145687 024_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 145,626,236 | 145,687,024 |
| nssv7469768 | Remapped | Perfect | NC_000001.10:g.(?_ 145626236)_(145687 024_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 145,626,236 | 145,687,024 |
| nssv7470763 | Remapped | Perfect | NC_000001.10:g.(?_ 145626236)_(145687 024_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 145,626,236 | 145,687,024 |
| nssv7472277 | Remapped | Perfect | NC_000001.10:g.(?_ 145626236)_(145687 024_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 145,626,236 | 145,687,024 |
| nssv7459426 | Submitted genomic | NC_000001.9:g.(?_1 44337593)_(1443983 81_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 144,337,593 | 144,398,381 | ||
| nssv7461599 | Submitted genomic | NC_000001.9:g.(?_1 44337593)_(1443983 81_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 144,337,593 | 144,398,381 | ||
| nssv7462995 | Submitted genomic | NC_000001.9:g.(?_1 44337593)_(1443983 81_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 144,337,593 | 144,398,381 | ||
| nssv7466349 | Submitted genomic | NC_000001.9:g.(?_1 44337593)_(1443983 81_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 144,337,593 | 144,398,381 | ||
| nssv7466777 | Submitted genomic | NC_000001.9:g.(?_1 44337593)_(1443983 81_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 144,337,593 | 144,398,381 | ||
| nssv7467167 | Submitted genomic | NC_000001.9:g.(?_1 44337593)_(1443983 81_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 144,337,593 | 144,398,381 | ||
| nssv7469768 | Submitted genomic | NC_000001.9:g.(?_1 44337593)_(1443983 81_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 144,337,593 | 144,398,381 | ||
| nssv7470763 | Submitted genomic | NC_000001.9:g.(?_1 44337593)_(1443983 81_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 144,337,593 | 144,398,381 | ||
| nssv7472277 | Submitted genomic | NC_000001.9:g.(?_1 44337593)_(1443983 81_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 144,337,593 | 144,398,381 |