nsv1189687
- Organism: Homo sapiens
- Study:nstd113 (Polyak et al. 2015)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:53,593
- 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: 350 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 350 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 99 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1189687 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 35,534,227 | 35,587,819 |
| nsv1189687 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 35,502,004 | 35,555,596 |
| nsv1189687 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 35,609,982 | 35,663,574 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7466786 | copy number gain | 31362 | Oligo aCGH | Probe signal intensity | nssv7470606, nssv7463085, nssv7464506 |
| nssv7467211 | copy number gain | 29020 | Oligo aCGH | Probe signal intensity | nssv7459567 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7466786 | Remapped | Perfect | NC_000006.12:g.(?_ 35534227)_(3558781 9_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 35,534,227 | 35,587,819 |
| nssv7467211 | Remapped | Perfect | NC_000006.12:g.(?_ 35534227)_(3558781 9_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 35,534,227 | 35,587,819 |
| nssv7466786 | Remapped | Perfect | NC_000006.11:g.(?_ 35502004)_(3555559 6_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 35,502,004 | 35,555,596 |
| nssv7467211 | Remapped | Perfect | NC_000006.11:g.(?_ 35502004)_(3555559 6_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 35,502,004 | 35,555,596 |
| nssv7466786 | Submitted genomic | NC_000006.10:g.(?_ 35609982)_(3566357 4_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 35,609,982 | 35,663,574 | ||
| nssv7467211 | Submitted genomic | NC_000006.10:g.(?_ 35609982)_(3566357 4_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 35,609,982 | 35,663,574 |