nsv482280
- Organism: Homo sapiens
- Study:nstd40 (Sharp et al. 2006)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI34 (hg16)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:162,355
- Publication(s):Sharp et al. 2006
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: 608 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 608 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 1 SVs from 1 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv482280 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 63,209,629 | 63,371,983 |
| nsv482280 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000013.10 | Chr13 | 63,783,762 | 63,946,116 |
| nsv482280 | Submitted genomic | NCBI34 (hg16) | Primary Assembly | NC_000013.8 | Chr13 | 61,581,763 | 61,744,117 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv3006713 | copy number gain | BAC aCGH | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3006713 | Remapped | Perfect | NC_000013.11:g.(?_ 63209629)_(6337198 3_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 63,209,629 | 63,371,983 |
| nssv3006713 | Remapped | Perfect | NC_000013.10:g.(?_ 63783762)_(6394611 6_?)dup | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 63,783,762 | 63,946,116 |
| nssv3006713 | Submitted genomic | NC_000013.8:g.(?_6 1581763)_(61744117 _?)dup | NCBI34 (hg16) | NC_000013.8 | Chr13 | 61,581,763 | 61,744,117 |