nsv442997
- Organism: Homo sapiens
- Study:nstd23 (Young et al. 2008)
- Variant Type:copy number variation
- Method Type:MLPA
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:951
- Description:Presumed ancestral, unduplicated (b36.1). OR2G6 is in unique sequence flanked by a recent inverted ~100-kb duplication
- Publication(s):Young et al. 2008
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: 498 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 503 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 275 SVs from 18 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv442997 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 248,521,647 | 248,522,597 |
| nsv442997 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 248,684,948 | 248,685,898 |
| nsv442997 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 246,751,571 | 246,752,521 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1671905 | Remapped | Perfect | NC_000001.11:g.(?_ 248521647)_(248522 597_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 248,521,647 | 248,522,597 |
| nssv1671905 | Remapped | Perfect | NC_000001.10:g.(?_ 248684948)_(248685 898_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 248,684,948 | 248,685,898 |
| nssv1671905 | Submitted genomic | NC_000001.9:g.(?_2 46751571)_(2467525 21_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 246,751,571 | 246,752,521 |