nsv469768
- Organism: Homo sapiens
- Study:nstd29 (Locke 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:148,496
- 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: 1651 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 698 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 1652 SVs from 94 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv469768 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 189,361,856 | 189,510,275 |
| nsv469768 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NT_187679.1 | Chr4|NT_18 7679.1 | 1 | 148,496 |
| nsv469768 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 190,283,010 | 190,431,429 |
| nsv469768 | Submitted genomic | NCBI34 (hg16) | Primary Assembly | NC_000004.8 | Chr4 | 190,978,900 | 191,127,319 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv1675594 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv1675594 | Remapped | Good | NT_187679.1:g.(?_1 )_(148496_?)dup | GRCh38.p12 | Second Pass | NT_187679.1 | Chr4|NT_18 7679.1 | 1 | 148,496 |
| nssv1675594 | Remapped | Perfect | NC_000004.12:g.(?_ 189361856)_(189510 275_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 189,361,856 | 189,510,275 |
| nssv1675594 | Remapped | Perfect | NC_000004.11:g.(?_ 190283010)_(190431 429_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 190,283,010 | 190,431,429 |
| nssv1675594 | Submitted genomic | NC_000004.8:g.(?_1 90978900)_(1911273 19_?)dup | NCBI34 (hg16) | NC_000004.8 | Chr4 | 190,978,900 | 191,127,319 |