nsv469826
- Organism: Homo sapiens
- Study:nstd29 (Locke 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:170,516
- 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: 1466 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 1495 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 3 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv469826 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 21,441,987 | 21,612,502 |
| nsv469826 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 21,442,096 | 21,612,611 |
| nsv469826 | Submitted genomic | NCBI34 (hg16) | Primary Assembly | NC_000005.7 | Chr5 | 21,487,597 | 21,658,112 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv1675595 | copy number gain | BAC aCGH | Probe signal intensity |
| nssv1675738 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv1675595 | Remapped | Perfect | NC_000005.10:g.(?_ 21441987)_(2161250 2_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 21,441,987 | 21,612,502 |
| nssv1675738 | Remapped | Perfect | NC_000005.10:g.(?_ 21441987)_(2161250 2_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 21,441,987 | 21,612,502 |
| nssv1675595 | Remapped | Perfect | NC_000005.9:g.(?_2 1442096)_(21612611 _?)dup | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 21,442,096 | 21,612,611 |
| nssv1675738 | Remapped | Perfect | NC_000005.9:g.(?_2 1442096)_(21612611 _?)dup | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 21,442,096 | 21,612,611 |
| nssv1675595 | Submitted genomic | NC_000005.7:g.(?_2 1487597)_(21658112 _?)dup | NCBI34 (hg16) | NC_000005.7 | Chr5 | 21,487,597 | 21,658,112 | ||
| nssv1675738 | Submitted genomic | NC_000005.7:g.(?_2 1487597)_(21658112 _?)dup | NCBI34 (hg16) | NC_000005.7 | Chr5 | 21,487,597 | 21,658,112 |