nsv1191231
- Organism: Homo sapiens
- Study:nstd113 (Polyak et al. 2015)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:91,873
- 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: 384 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 384 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 119 SVs from 17 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1191231 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 112,016,847 | 112,108,719 |
| nsv1191231 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 111,656,902 | 111,748,774 |
| nsv1191231 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 111,444,138 | 111,536,010 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7462905 | copy number gain | 19281 | Oligo aCGH | Probe signal intensity | nssv7459504, nssv7467804 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7462905 | Remapped | Perfect | NC_000007.14:g.(?_ 112016847)_(112108 719_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 112,016,847 | 112,108,719 |
| nssv7462905 | Remapped | Perfect | NC_000007.13:g.(?_ 111656902)_(111748 774_?)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 111,656,902 | 111,748,774 |
| nssv7462905 | Submitted genomic | NC_000007.12:g.(?_ 111444138)_(111536 010_?)dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 111,444,138 | 111,536,010 |