nsv226
- Organism: Homo sapiens
- Study:nstd1 (Tuzun et al. 2005)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:23,500
- Publication(s):Tuzun et al. 2005
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 242 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 242 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 8 SVs from 4 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv226 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 151,600,583 | 151,624,082 |
| nsv226 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 152,457,097 | 152,480,596 |
| nsv226 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000002.9 | Chr2 | 152,282,605 | 152,306,104 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv226 | insertion | SAMN00000376 | Sequencing | Paired-end mapping | 297 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv226 | Remapped | Perfect | NC_000002.12:g.(15 1600583_?)_(?_1516 24082)ins12710 | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 151,600,583 | 151,624,082 |
| nssv226 | Remapped | Perfect | NC_000002.11:g.(15 2457097_?)_(?_1524 80596)ins12710 | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 152,457,097 | 152,480,596 |
| nssv226 | Submitted genomic | NC_000002.9:g.(152 282605_?)_(?_15230 6104)ins12710 | NCBI35 (hg17) | NC_000002.9 | Chr2 | 152,282,605 | 152,306,104 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv226 | 4 | SAMN00000376 | BAC aCGH | Probe signal intensity | Pass |