nsv1189749
- Organism: Homo sapiens
- Study:nstd113 (Polyak et al. 2015)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:120,732
- 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: 604 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 604 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 194 SVs from 20 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1189749 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 104,321,214 | 104,441,945 |
| nsv1189749 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000014.8 | Chr14 | 104,787,551 | 104,908,282 |
| nsv1189749 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 103,858,596 | 103,979,327 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7470240 | copy number gain | 30443 | Oligo aCGH | Probe signal intensity | nssv7464051, nssv7465914 |
| nssv7471160 | copy number gain | 30315 | Oligo aCGH | Probe signal intensity | nssv7468963 |
| nssv7472520 | copy number gain | 15439 | Oligo aCGH | Probe signal intensity | nssv7459043 |
| nssv7474902 | copy number gain | 15820 | Oligo aCGH | Probe signal intensity | nssv7473457 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7470240 | Remapped | Perfect | NC_000014.9:g.(?_1 04321214)_(1044419 45_?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 104,321,214 | 104,441,945 |
| nssv7471160 | Remapped | Perfect | NC_000014.9:g.(?_1 04321214)_(1044419 45_?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 104,321,214 | 104,441,945 |
| nssv7472520 | Remapped | Perfect | NC_000014.9:g.(?_1 04321214)_(1044419 45_?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 104,321,214 | 104,441,945 |
| nssv7474902 | Remapped | Perfect | NC_000014.9:g.(?_1 04321214)_(1044419 45_?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 104,321,214 | 104,441,945 |
| nssv7470240 | Remapped | Perfect | NC_000014.8:g.(?_1 04787551)_(1049082 82_?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 104,787,551 | 104,908,282 |
| nssv7471160 | Remapped | Perfect | NC_000014.8:g.(?_1 04787551)_(1049082 82_?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 104,787,551 | 104,908,282 |
| nssv7472520 | Remapped | Perfect | NC_000014.8:g.(?_1 04787551)_(1049082 82_?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 104,787,551 | 104,908,282 |
| nssv7474902 | Remapped | Perfect | NC_000014.8:g.(?_1 04787551)_(1049082 82_?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 104,787,551 | 104,908,282 |
| nssv7470240 | Submitted genomic | NC_000014.7:g.(?_1 03858596)_(1039793 27_?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 103,858,596 | 103,979,327 | ||
| nssv7471160 | Submitted genomic | NC_000014.7:g.(?_1 03858596)_(1039793 27_?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 103,858,596 | 103,979,327 | ||
| nssv7472520 | Submitted genomic | NC_000014.7:g.(?_1 03858596)_(1039793 27_?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 103,858,596 | 103,979,327 | ||
| nssv7474902 | Submitted genomic | NC_000014.7:g.(?_1 03858596)_(1039793 27_?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 103,858,596 | 103,979,327 |