nsv820127
- Organism: Homo sapiens
- Study:nstd43 (Kim et al. 2009)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:40,477
- Publication(s):Kim et al. 2009
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: 3066 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 3066 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 2017 SVs from 33 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv820127 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 32,488,999 | 32,529,475 |
| nsv820127 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 32,456,776 | 32,497,252 |
| nsv820127 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 32,564,754 | 32,605,230 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1418732 | copy number gain | SAMN00002681 | Oligo aCGH | Probe signal intensity | 1,333 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1418732 | Remapped | Perfect | NC_000006.12:g.(?_ 32488999)_(3252947 5_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 32,488,999 | 32,529,475 |
| nssv1418732 | Remapped | Perfect | NC_000006.11:g.(?_ 32456776)_(3249725 2_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 32,456,776 | 32,497,252 |
| nssv1418732 | Submitted genomic | NC_000006.10:g.(?_ 32564754)_(3260523 0_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 32,564,754 | 32,605,230 |