nsv511934
- Organism: Homo sapiens
- Study:nstd50 (Arlt et al. 2011)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:29,249
- Publication(s):Arlt et al. 2011
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: 535 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 155 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 535 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 241 SVs from 21 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv511934 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 170,377,740 | - | 170,406,988 |
| nsv511934 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187553.1 | Chr6|NT_18 7553.1 | - | 114,448 | 143,549 |
| nsv511934 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 170,686,828 | - | 170,716,076 |
| nsv511934 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 170,528,753 | - | 170,558,001 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv624472 | copy number loss | 1 | Sequencing | Paired-end mapping | 2,637 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nssv624472 | Remapped | Good | NT_187553.1:g.(?_1 14448)_(?_143549)d el | GRCh38.p12 | Second Pass | NT_187553.1 | Chr6|NT_18 7553.1 | - | 114,448 | 143,549 |
| nssv624472 | Remapped | Perfect | NC_000006.12:g.(17 0377740_?)_(?_1704 06988)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 170,377,740 | - | 170,406,988 |
| nssv624472 | Remapped | Perfect | NC_000006.11:g.(17 0686828_?)_(?_1707 16076)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 170,686,828 | - | 170,716,076 |
| nssv624472 | Submitted genomic | NC_000006.10:g.(17 0528753_?)_(?_1705 58001)del29249 | NCBI36 (hg18) | NC_000006.10 | Chr6 | 170,528,753 | - | 170,558,001 |