nsv469542
- Organism: Homo sapiens
- Study:nstd29 (Locke et al. 2006)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI34 (hg16)
- Variant Calls:6
- Validation:Not tested
- Clinical Assertions: No
- Region Size:94,506
- 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: 731 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 664 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 3 SVs from 2 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv469542 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 41,365,714 | 41,460,219 |
| nsv469542 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 45,448,737 | 45,543,242 |
| nsv469542 | Submitted genomic | NCBI34 (hg16) | Primary Assembly | GPC_000000201.1 | Chr9 | 43,184,377 | 43,278,882 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv1672673 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv1674169 | copy number gain | BAC aCGH | Probe signal intensity |
| nssv1674327 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv1674443 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv1674885 | copy number loss | BAC aCGH | Probe signal intensity |
| nssv1675765 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv1672673 | Remapped | Perfect | NC_000009.12:g.(?_ 41365714)_(4146021 9_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 41,365,714 | 41,460,219 |
| nssv1674169 | Remapped | Perfect | NC_000009.12:g.(?_ 41365714)_(4146021 9_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 41,365,714 | 41,460,219 |
| nssv1674327 | Remapped | Perfect | NC_000009.12:g.(?_ 41365714)_(4146021 9_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 41,365,714 | 41,460,219 |
| nssv1674443 | Remapped | Perfect | NC_000009.12:g.(?_ 41365714)_(4146021 9_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 41,365,714 | 41,460,219 |
| nssv1674885 | Remapped | Perfect | NC_000009.12:g.(?_ 41365714)_(4146021 9_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 41,365,714 | 41,460,219 |
| nssv1675765 | Remapped | Perfect | NC_000009.12:g.(?_ 41365714)_(4146021 9_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 41,365,714 | 41,460,219 |
| nssv1672673 | Remapped | Perfect | NC_000009.11:g.(?_ 45448737)_(4554324 2_?)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 45,448,737 | 45,543,242 |
| nssv1674169 | Remapped | Perfect | NC_000009.11:g.(?_ 45448737)_(4554324 2_?)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 45,448,737 | 45,543,242 |
| nssv1674327 | Remapped | Perfect | NC_000009.11:g.(?_ 45448737)_(4554324 2_?)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 45,448,737 | 45,543,242 |
| nssv1674443 | Remapped | Perfect | NC_000009.11:g.(?_ 45448737)_(4554324 2_?)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 45,448,737 | 45,543,242 |
| nssv1674885 | Remapped | Perfect | NC_000009.11:g.(?_ 45448737)_(4554324 2_?)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 45,448,737 | 45,543,242 |
| nssv1675765 | Remapped | Perfect | NC_000009.11:g.(?_ 45448737)_(4554324 2_?)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 45,448,737 | 45,543,242 |
| nssv1672673 | Submitted genomic | GPC_000000201.1:g. (?_43184377)_(4327 8882_?)del | NCBI34 (hg16) | GPC_000000201.1 | Chr9 | 43,184,377 | 43,278,882 | ||
| nssv1674169 | Submitted genomic | GPC_000000201.1:g. (?_43184377)_(4327 8882_?)dup | NCBI34 (hg16) | GPC_000000201.1 | Chr9 | 43,184,377 | 43,278,882 | ||
| nssv1674327 | Submitted genomic | GPC_000000201.1:g. (?_43184377)_(4327 8882_?)del | NCBI34 (hg16) | GPC_000000201.1 | Chr9 | 43,184,377 | 43,278,882 | ||
| nssv1674443 | Submitted genomic | GPC_000000201.1:g. (?_43184377)_(4327 8882_?)del | NCBI34 (hg16) | GPC_000000201.1 | Chr9 | 43,184,377 | 43,278,882 | ||
| nssv1674885 | Submitted genomic | GPC_000000201.1:g. (?_43184377)_(4327 8882_?)del | NCBI34 (hg16) | GPC_000000201.1 | Chr9 | 43,184,377 | 43,278,882 | ||
| nssv1675765 | Submitted genomic | GPC_000000201.1:g. (?_43184377)_(4327 8882_?)del | NCBI34 (hg16) | GPC_000000201.1 | Chr9 | 43,184,377 | 43,278,882 |