nsv469805
- Organism: Homo sapiens
- Study:nstd29 (Locke 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:187,254
- Publication(s):Locke 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: 1696 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 739 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 1680 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 2 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv469805 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 523,090 | 710,343 |
| nsv469805 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_017363817.1 | Chr17|NW_0 17363817.1 | 82,567 | 269,820 |
| nsv469805 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 426,330 | 613,583 |
| nsv469805 | Submitted genomic | NCBI34 (hg16) | Primary Assembly | NC_000017.8 | Chr17 | 411,080 | 598,333 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv1673214 | copy number loss | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv1673214 | Remapped | Perfect | NW_017363817.1:g.( ?_82567)_(269820_? )del | GRCh38.p12 | Second Pass | NW_017363817.1 | Chr17|NW_0 17363817.1 | 82,567 | 269,820 |
| nssv1673214 | Remapped | Perfect | NC_000017.11:g.(?_ 523090)_(710343_?) del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 523,090 | 710,343 |
| nssv1673214 | Remapped | Perfect | NC_000017.10:g.(?_ 426330)_(613583_?) del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 426,330 | 613,583 |
| nssv1673214 | Submitted genomic | NC_000017.8:g.(?_4 11080)_(598333_?)d el | NCBI34 (hg16) | NC_000017.8 | Chr17 | 411,080 | 598,333 |