nsv1191973
- 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:255,454
- 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: 2666 SVs from 106 studies. See in: genome view
Overlapping variant regions from other studies: 2666 SVs from 106 studies. See in: genome view
Overlapping variant regions from other studies: 867 SVs from 32 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1191973 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 7,709,988 | 7,965,441 |
| nsv1191973 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 7,862,584 | 8,118,037 |
| nsv1191973 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 7,753,851 | 8,009,304 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7458976 | copy number gain | 31306 | Oligo aCGH | Probe signal intensity | nssv7459917 |
| nssv7467035 | copy number gain | 30546 | Oligo aCGH | Probe signal intensity | nssv7464360, nssv7463374 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7458976 | Remapped | Perfect | NC_000012.12:g.(?_ 7709988)_(7965441_ ?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,709,988 | 7,965,441 |
| nssv7467035 | Remapped | Perfect | NC_000012.12:g.(?_ 7709988)_(7965441_ ?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 7,709,988 | 7,965,441 |
| nssv7458976 | Remapped | Perfect | NC_000012.11:g.(?_ 7862584)_(8118037_ ?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 7,862,584 | 8,118,037 |
| nssv7467035 | Remapped | Perfect | NC_000012.11:g.(?_ 7862584)_(8118037_ ?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 7,862,584 | 8,118,037 |
| nssv7458976 | Submitted genomic | NC_000012.10:g.(?_ 7753851)_(8009304_ ?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 7,753,851 | 8,009,304 | ||
| nssv7467035 | Submitted genomic | NC_000012.10:g.(?_ 7753851)_(8009304_ ?)dup | NCBI36 (hg18) | NC_000012.10 | Chr12 | 7,753,851 | 8,009,304 |