nsv1059472
- Organism: Homo sapiens
- Study:nstd100 (Coe et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,472,495
- Publication(s):Coe et al. 2014
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: 3434 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 3434 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 923 SVs from 26 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1059472 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 27,276,596 | 28,749,090 |
| nsv1059472 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000018.9 | Chr18 | 24,856,560 | 26,329,054 |
| nsv1059472 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000018.8 | Chr18 | 23,110,558 | 24,583,052 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv3725301 | copy number gain | SNP array | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3725301 | Remapped | Perfect | NC_000018.10:g.(?_ 27276596)_(2874909 0_?)dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 27,276,596 | 28,749,090 |
| nssv3725301 | Remapped | Perfect | NC_000018.9:g.(?_2 4856560)_(26329054 _?)dup | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 24,856,560 | 26,329,054 |
| nssv3725301 | Submitted genomic | NC_000018.8:g.(?_2 3110558)_(24583052 _?)dup | NCBI36 (hg18) | NC_000018.8 | Chr18 | 23,110,558 | 24,583,052 |