nsv482454
- Organism: Homo sapiens
- Study:nstd40 (Sharp et al. 2006)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI34 (hg16)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:171,536
- 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: 686 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 686 SVs from 66 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv482454 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 17,939,731 | 18,111,266 |
| nsv482454 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 17,939,840 | 18,111,375 |
| nsv482454 | Submitted genomic | NCBI34 (hg16) | Primary Assembly | NC_000005.7 | Chr5 | 17,985,341 | 18,156,876 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv3008644 | copy number gain | BAC aCGH | Probe signal intensity |
| nssv3010618 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv3008644 | Remapped | Perfect | NC_000005.10:g.(?_ 17939731)_(1811126 6_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 17,939,731 | 18,111,266 |
| nssv3010618 | Remapped | Perfect | NC_000005.10:g.(?_ 17939731)_(1811126 6_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 17,939,731 | 18,111,266 |
| nssv3008644 | Remapped | Perfect | NC_000005.9:g.(?_1 7939840)_(18111375 _?)dup | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 17,939,840 | 18,111,375 |
| nssv3010618 | Remapped | Perfect | NC_000005.9:g.(?_1 7939840)_(18111375 _?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 17,939,840 | 18,111,375 |
| nssv3008644 | Submitted genomic | NC_000005.7:g.(?_1 7985341)_(18156876 _?)dup | NCBI34 (hg16) | NC_000005.7 | Chr5 | 17,985,341 | 18,156,876 | ||
| nssv3010618 | Submitted genomic | NC_000005.7:g.(?_1 7985341)_(18156876 _?)del | NCBI34 (hg16) | NC_000005.7 | Chr5 | 17,985,341 | 18,156,876 |