nsv482520
- 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:166,454
- 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: 487 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 487 SVs from 64 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv482520 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 151,547,915 | 151,714,368 |
| nsv482520 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 152,404,429 | 152,570,882 |
| nsv482520 | Submitted genomic | NCBI34 (hg16) | Primary Assembly | GPC_000000200.1 | Chr2 | 152,606,974 | 152,773,427 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv3008096 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv3008096 | Remapped | Perfect | NC_000002.12:g.(?_ 151547915)_(151714 368_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 151,547,915 | 151,714,368 |
| nssv3008096 | Remapped | Perfect | NC_000002.11:g.(?_ 152404429)_(152570 882_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 152,404,429 | 152,570,882 |
| nssv3008096 | Submitted genomic | GPC_000000200.1:g. (?_152606974)_(152 773427_?)dup | NCBI34 (hg16) | GPC_000000200.1 | Chr2 | 152,606,974 | 152,773,427 |