nsv428121
- Organism: Homo sapiens
- Study:nstd8 (Perry et al. 2008b)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:316,969
- Publication(s):Perry et al. 2008
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: 1216 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 1216 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 397 SVs from 27 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv428121 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 104,441,976 | 104,758,944 |
| nsv428121 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 103,777,677 | 104,094,645 |
| nsv428121 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 103,805,576 | 104,122,544 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv450489 | copy number loss | HGDP00460 | BAC aCGH | Probe signal intensity | 67 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv450489 | Remapped | Perfect | NC_000005.10:g.(?_ 104441976)_(104758 944_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 104,441,976 | 104,758,944 |
| nssv450489 | Remapped | Perfect | NC_000005.9:g.(?_1 03777677)_(1040946 45_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 103,777,677 | 104,094,645 |
| nssv450489 | Submitted genomic | NC_000005.8:g.(?_1 03805576)_(1041225 44_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 103,805,576 | 104,122,544 |