nsv56
- 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:Not tested
- Clinical Assertions: No
- Region Size:29,348
- Publication(s):Tuzun et al. 2005
- TRACE: TEMPLATE_ID='G248P802685B5'
- TRACE: TEMPLATE_ID='G248P80430H7'
- TRACE: TEMPLATE_ID='G248P80659F9'
- TRACE: TEMPLATE_ID='G248P83332D4'
- TRACE: TEMPLATE_ID='G248P83334E10'
- TRACE: TEMPLATE_ID='G248P87595D6'
- TRACE: TEMPLATE_ID='G248P87874C12'
- TRACE: TEMPLATE_ID='G248P8788H3'
- TRACE: TEMPLATE_ID='G248P8802E11'
- TRACE: TEMPLATE_ID='G248P88541B11'
- TRACE: TEMPLATE_ID='G248P89063A2'
- Overlapping Genes
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: 500 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 500 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 9 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv56 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 122,598,443 | 122,627,790 |
| nsv56 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 124,357,959 | 124,387,306 |
| nsv56 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000010.8 | Chr10 | 124,347,949 | 124,377,296 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv56 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv56 | Remapped | Perfect | NC_000010.11:g.(12 2598443_?)_(?_1226 27790)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 122,598,443 | 122,627,790 |
| nssv56 | Remapped | Perfect | NC_000010.10:g.(12 4357959_?)_(?_1243 87306)del | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 124,357,959 | 124,387,306 |
| nssv56 | Submitted genomic | NC_000010.8:g.(124 347949_?)_(?_12437 7296)del13497 | NCBI35 (hg17) | NC_000010.8 | Chr10 | 124,347,949 | 124,377,296 |