nsv2740964
- Organism: Homo sapiens
- Study:nstd130 (Leppa et al. 2016)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:39,617
- Publication(s):Leppa et al. 2016
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: 829 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 564 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 401 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 829 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 401 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 564 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 587 SVs from 23 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv2740964 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 31,984,135 | 32,023,751 |
| nsv2740964 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 3,285,324 | 3,324,940 |
| nsv2740964 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 3,231,908 | 3,265,197 |
| nsv2740964 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 31,951,912 | 31,991,528 |
| nsv2740964 | Remapped | Pass | GRCh37.p13 | ALT_REF_LOCI_3 | Second Pass | NT_167245.1 | Chr6|NT_16 7245.1 | 3,237,493 | 3,270,782 |
| nsv2740964 | Remapped | Good | GRCh37.p13 | ALT_REF_LOCI_7 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | 3,284,622 | 3,324,238 |
| nsv2740964 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 32,059,891 | 32,099,506 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv13582545 | deletion | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv13582545 | Remapped | Good | NT_167249.2:g.(?_3 285324)_(3324940_? )del | GRCh38.p12 | Second Pass | NT_167249.2 | Chr6|NT_16 7249.2 | 3,285,324 | 3,324,940 |
| nssv13582545 | Remapped | Pass | NT_167245.2:g.(?_3 231908)_(3265197_? )del | GRCh38.p12 | Second Pass | NT_167245.2 | Chr6|NT_16 7245.2 | 3,231,908 | 3,265,197 |
| nssv13582545 | Remapped | Good | NC_000006.12:g.(?_ 31984135)_(3202375 1_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 31,984,135 | 32,023,751 |
| nssv13582545 | Remapped | Pass | NT_167245.1:g.(?_3 237493)_(3270782_? )delNT_167245.1:g. (?_3237493)_(32707 82_?)del | GRCh37.p13 | Second Pass | NT_167245.1 | Chr6|NT_16 7245.1 | 3,237,493 | 3,270,782 |
| nssv13582545 | Remapped | Good | NT_167249.1:g.(?_3 284622)_(3324238_? )del | GRCh37.p13 | Second Pass | NT_167249.1 | Chr6|NT_16 7249.1 | 3,284,622 | 3,324,238 |
| nssv13582545 | Remapped | Good | NC_000006.11:g.(?_ 31951912)_(3199152 8_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 31,951,912 | 31,991,528 |
| nssv13582545 | Submitted genomic | NC_000006.10:g.(?_ 32059891)_(3209950 6_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 32,059,891 | 32,099,506 |