nsv152
- Organism: Homo sapiens
- Study:nstd1 (Tuzun et al. 2005)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:32,505
- 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: 818 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 818 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 26 SVs from 6 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv152 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 85,382,581 | 85,415,085 |
| nsv152 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 85,416,187 | 85,448,691 |
| nsv152 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000016.8 | Chr16 | 83,973,688 | 84,006,192 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv152 | deletion | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv152 | Remapped | Perfect | NC_000016.10:g.(85 382581_?)_(?_85415 085)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 85,382,581 | 85,415,085 |
| nssv152 | Remapped | Perfect | NC_000016.9:g.(854 16187_?)_(?_854486 91)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 85,416,187 | 85,448,691 |
| nssv152 | Submitted genomic | NC_000016.8:g.(839 73688_?)_(?_840061 92)del9043 | NCBI35 (hg17) | NC_000016.8 | Chr16 | 83,973,688 | 84,006,192 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv152 | 2 | SAMN00000376 | Sequencing | Sequence alignment | Pass |