nsv1188817
- Organism: Homo sapiens
- Study:nstd113 (Polyak et al. 2015)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:142,072
- 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: 1248 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 1248 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 496 SVs from 30 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1188817 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 185,452,336 | 185,594,407 |
| nsv1188817 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 186,373,490 | 186,515,561 |
| nsv1188817 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 186,610,484 | 186,752,555 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7461105 | copy number gain | 19863 | Oligo aCGH | Probe signal intensity | nssv7468787, nssv7462555, nssv7468840 |
| nssv7462583 | copy number gain | 30059 | Oligo aCGH | Probe signal intensity | 6 |
| nssv7472428 | copy number gain | 17723 | Oligo aCGH | Probe signal intensity | nssv7460102, nssv7468176, nssv7462363 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7461105 | Remapped | Perfect | NC_000004.12:g.(?_ 185452336)_(185594 407_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 185,452,336 | 185,594,407 |
| nssv7462583 | Remapped | Perfect | NC_000004.12:g.(?_ 185452336)_(185594 407_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 185,452,336 | 185,594,407 |
| nssv7472428 | Remapped | Perfect | NC_000004.12:g.(?_ 185452336)_(185594 407_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 185,452,336 | 185,594,407 |
| nssv7461105 | Remapped | Perfect | NC_000004.11:g.(?_ 186373490)_(186515 561_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 186,373,490 | 186,515,561 |
| nssv7462583 | Remapped | Perfect | NC_000004.11:g.(?_ 186373490)_(186515 561_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 186,373,490 | 186,515,561 |
| nssv7472428 | Remapped | Perfect | NC_000004.11:g.(?_ 186373490)_(186515 561_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 186,373,490 | 186,515,561 |
| nssv7461105 | Submitted genomic | NC_000004.10:g.(?_ 186610484)_(186752 555_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 186,610,484 | 186,752,555 | ||
| nssv7462583 | Submitted genomic | NC_000004.10:g.(?_ 186610484)_(186752 555_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 186,610,484 | 186,752,555 | ||
| nssv7472428 | Submitted genomic | NC_000004.10:g.(?_ 186610484)_(186752 555_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 186,610,484 | 186,752,555 |