nsv482470
- 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:168,769
- 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: 1238 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 695 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 1238 SVs from 95 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv482470 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 16,480,252 | 16,649,020 |
| nsv482470 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 2,141,312 | 2,309,956 |
| nsv482470 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 16,574,109 | 16,742,877 |
| nsv482470 | Submitted genomic | NCBI34 (hg16) | Primary Assembly | NC_000016.7 | Chr16 | 16,540,463 | 16,709,231 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv3009365 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv3009365 | Remapped | Good | NT_187607.1:g.(?_2 141312)_(2309956_? )dup | GRCh38.p12 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 2,141,312 | 2,309,956 |
| nssv3009365 | Remapped | Perfect | NC_000016.10:g.(?_ 16480252)_(1664902 0_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 16,480,252 | 16,649,020 |
| nssv3009365 | Remapped | Perfect | NC_000016.9:g.(?_1 6574109)_(16742877 _?)dup | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 16,574,109 | 16,742,877 |
| nssv3009365 | Submitted genomic | NC_000016.7:g.(?_1 6540463)_(16709231 _?)dup | NCBI34 (hg16) | NC_000016.7 | Chr16 | 16,540,463 | 16,709,231 |